Mutagenetix > Incidental Mutation

Incidental Mutation 'R2127:Spef2'

227667

Institutional Source

Beutler Lab

Gene Symbol

Spef2

Ensembl Gene

ENSMUSG00000072663

Gene Name

sperm flagellar 2

Synonyms

C230086A09Rik

MMRRC Submission

040130-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9578279-9748954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9729747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 124 (T124A)

Ref Sequence

ENSEMBL: ENSMUSP00000146967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041840] [ENSMUST00000159093] [ENSMUST00000159368] [ENSMUST00000160236] [ENSMUST00000162780] [ENSMUST00000208854]

AlphaFold

Q8C9J3

Predicted Effect

probably benign
Transcript: ENSMUST00000041840
AA Change: T124A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035762
Gene: ENSMUSG00000072663
AA Change: T124A

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	161	2.8e-59	PFAM
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC
Pfam:ADK	600	829	5.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159093
AA Change: T124A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124891
Gene: ENSMUSG00000072663
AA Change: T124A

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	166	3.5e-57	PFAM
coiled coil region	167	205	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
coiled coil region	228	260	N/A	INTRINSIC
low complexity region	304	313	N/A	INTRINSIC
coiled coil region	369	402	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159288
AA Change: T124A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125336
Gene: ENSMUSG00000072663
AA Change: T124A

Domain	Start	End	E-Value	Type
Pfam:CH_2	5	102	3.1e-25	PFAM
low complexity region	106	115	N/A	INTRINSIC
low complexity region	137	148	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC
Pfam:ADK	602	789	8.8e-11	PFAM
low complexity region	819	855	N/A	INTRINSIC
low complexity region	899	907	N/A	INTRINSIC
low complexity region	1201	1221	N/A	INTRINSIC
low complexity region	1264	1278	N/A	INTRINSIC
low complexity region	1359	1369	N/A	INTRINSIC
SCOP:d1rec__	1378	1530	3e-3	SMART
low complexity region	1605	1624	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159368
AA Change: T124A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124723
Gene: ENSMUSG00000072663
AA Change: T124A

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	162	1.4e-59	PFAM
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160236
AA Change: T124A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: T124A

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	160	4.6e-59	PFAM
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC
Pfam:ADK	600	787	3.7e-10	PFAM
low complexity region	819	855	N/A	INTRINSIC
low complexity region	899	907	N/A	INTRINSIC
low complexity region	1201	1225	N/A	INTRINSIC
low complexity region	1254	1268	N/A	INTRINSIC
low complexity region	1349	1359	N/A	INTRINSIC
SCOP:d1rec__	1368	1520	3e-3	SMART
low complexity region	1595	1614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162780
AA Change: T124A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124393
Gene: ENSMUSG00000072663
AA Change: T124A

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	164	1.1e-57	PFAM
coiled coil region	167	205	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
coiled coil region	228	260	N/A	INTRINSIC
low complexity region	304	313	N/A	INTRINSIC
coiled coil region	369	402	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208854
AA Change: T124A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.0980

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (93/95)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,752 (GRCm39)	S300T	possibly damaging	Het
A2ml1	A	C	6: 128,535,400 (GRCm39)	V770G	probably damaging	Het
Abca6	A	G	11: 110,110,475 (GRCm39)	I558T	probably benign	Het
Abhd17c	C	A	7: 83,759,870 (GRCm39)	G295W	probably damaging	Het
Actn3	G	A	19: 4,921,703 (GRCm39)	A159V	probably damaging	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Agbl1	G	T	7: 76,069,628 (GRCm39)	V373F	possibly damaging	Het
Aldh1a1	A	T	19: 20,620,279 (GRCm39)	E485D	probably benign	Het
Amdhd2	A	G	17: 24,377,282 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,206,622 (GRCm39)	D15G	probably damaging	Het
Atp2b2	A	G	6: 113,737,611 (GRCm39)	L921P	probably damaging	Het
Btbd16	A	G	7: 130,386,038 (GRCm39)	N88S	probably benign	Het
Capn10	T	A	1: 92,865,756 (GRCm39)	C77*	probably null	Het
Caskin1	T	C	17: 24,715,970 (GRCm39)		probably null	Het
Catsper4	T	C	4: 133,941,117 (GRCm39)	D254G	probably benign	Het
Catsperg1	T	C	7: 28,884,465 (GRCm39)	D958G	probably damaging	Het
Ccar2	T	G	14: 70,377,100 (GRCm39)	K787Q	probably benign	Het
Ccdc191	C	T	16: 43,728,998 (GRCm39)	T244I	probably benign	Het
Cd33	A	T	7: 43,179,699 (GRCm39)	L243Q	possibly damaging	Het
Cdc37	T	C	9: 21,061,143 (GRCm39)	Y4C	probably damaging	Het
Cenpe	T	G	3: 134,945,541 (GRCm39)	N1018K	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Csmd1	T	C	8: 15,967,392 (GRCm39)	D3157G	probably damaging	Het
Dhx57	C	T	17: 80,580,477 (GRCm39)	V492M	probably damaging	Het
Dnah2	A	T	11: 69,349,011 (GRCm39)	I2486N	probably benign	Het
Dnhd1	C	T	7: 105,342,928 (GRCm39)	T1424I	possibly damaging	Het
Dsc3	C	T	18: 20,101,411 (GRCm39)	A661T	probably benign	Het
F930015N05Rik	A	G	11: 64,326,229 (GRCm39)		probably benign	Het
Fbxo34	C	A	14: 47,767,563 (GRCm39)	R308S	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm11595	A	T	11: 99,663,327 (GRCm39)	C118S	unknown	Het
Gm9742	A	T	13: 8,085,011 (GRCm39)		noncoding transcript	Het
Gmeb2	G	A	2: 180,900,842 (GRCm39)	A185V	probably benign	Het
Gpr15	A	G	16: 58,538,618 (GRCm39)	V157A	possibly damaging	Het
Gpr3	C	T	4: 132,937,932 (GRCm39)	A247T	probably damaging	Het
Grin2b	A	C	6: 135,755,698 (GRCm39)	S539A	probably benign	Het
Hmbs	T	C	9: 44,252,004 (GRCm39)	T92A	probably benign	Het
Inpp4a	A	G	1: 37,406,000 (GRCm39)	M173V	probably benign	Het
Irx4	T	A	13: 73,413,595 (GRCm39)	S22T	probably benign	Het
Jph3	C	T	8: 122,511,881 (GRCm39)	A623V	probably benign	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Ksr1	G	A	11: 78,924,139 (GRCm39)	S361L	probably damaging	Het
Lyst	T	G	13: 13,809,847 (GRCm39)	Y506D	probably damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,064,007 (GRCm39)	S2788P	possibly damaging	Het
Mfsd2b	T	A	12: 4,917,659 (GRCm39)	Y129F	probably benign	Het
Mindy4	T	C	6: 55,195,250 (GRCm39)	S155P	probably benign	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Nckipsd	A	G	9: 108,688,932 (GRCm39)	T156A	probably benign	Het
Ndst1	G	A	18: 60,824,280 (GRCm39)	T799I	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Nphp3	G	A	9: 103,885,442 (GRCm39)	V167M	probably damaging	Het
Nup107	C	A	10: 117,610,380 (GRCm39)	R354L	possibly damaging	Het
Olfml2a	T	C	2: 38,831,699 (GRCm39)	C93R	probably damaging	Het
Or12e10	A	G	2: 87,640,685 (GRCm39)	I174V	probably benign	Het
Or1e25	C	G	11: 73,493,631 (GRCm39)	S75C	possibly damaging	Het
Or5l14	A	T	2: 87,793,176 (GRCm39)	V20D	probably benign	Het
Pappa	T	A	4: 65,215,494 (GRCm39)	L1134M	probably damaging	Het
Plscr4	T	G	9: 92,370,683 (GRCm39)	F217V	possibly damaging	Het
Pnpla8	T	A	12: 44,354,840 (GRCm39)	Y667N	probably benign	Het
Polg	A	G	7: 79,114,676 (GRCm39)	L95P	probably damaging	Het
Psg20	T	G	7: 18,416,643 (GRCm39)	I158L	probably damaging	Het
Pwwp2a	A	G	11: 43,596,145 (GRCm39)	S437G	probably benign	Het
Rdx	A	G	9: 51,981,032 (GRCm39)	M305V	possibly damaging	Het
Rinl	A	G	7: 28,496,168 (GRCm39)	E383G	probably damaging	Het
Ror1	A	G	4: 100,299,290 (GRCm39)	M888V	probably benign	Het
Rps12	A	T	10: 23,662,776 (GRCm39)	I22K	possibly damaging	Het
Rtca	C	A	3: 116,291,323 (GRCm39)	R219L	possibly damaging	Het
Ryr2	G	A	13: 11,727,081 (GRCm39)	P2427S	probably damaging	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc39a11	A	G	11: 113,260,629 (GRCm39)	S176P	probably benign	Het
Slfn10-ps	A	G	11: 82,921,168 (GRCm39)		noncoding transcript	Het
Sult2a4	G	T	7: 13,649,185 (GRCm39)	P207Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tcstv1a	T	C	13: 120,355,282 (GRCm39)	T117A	probably damaging	Het
Tha1	A	G	11: 117,760,600 (GRCm39)	V208A	probably damaging	Het
Tmbim4	T	A	10: 120,060,658 (GRCm39)	I215N	probably damaging	Het
Tmem202	T	A	9: 59,427,483 (GRCm39)	I122F	probably benign	Het
Tomm70a	T	C	16: 56,942,234 (GRCm39)	S4P	unknown	Het
Tpcn2	A	G	7: 144,827,712 (GRCm39)		probably benign	Het
Trim36	A	T	18: 46,345,404 (GRCm39)	F10I	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Usp8	T	G	2: 126,579,495 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,533 (GRCm39)	Y81F	probably benign	Het
Vps36	G	T	8: 22,708,305 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,236,565 (GRCm39)		noncoding transcript	Het
Wnt3	A	G	11: 103,703,474 (GRCm39)	H319R	possibly damaging	Het
Zfp319	A	T	8: 96,050,391 (GRCm39)		probably benign	Het
Zfp408	T	C	2: 91,475,519 (GRCm39)	E545G	probably damaging	Het
Zfp799	C	T	17: 33,038,472 (GRCm39)	R598Q	possibly damaging	Het
Zfp831	T	C	2: 174,489,917 (GRCm39)	V1228A	probably benign	Het
Zfp938	T	C	10: 82,061,876 (GRCm39)	D248G	probably benign	Het

Other mutations in Spef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Spef2	APN	15	9,740,621 (GRCm39)	missense	probably damaging	1.00
IGL00886:Spef2	APN	15	9,663,181 (GRCm39)	missense	probably damaging	1.00
IGL01409:Spef2	APN	15	9,716,499 (GRCm39)	missense	probably damaging	1.00
IGL01413:Spef2	APN	15	9,676,376 (GRCm39)	missense	probably benign	0.16
IGL01474:Spef2	APN	15	9,663,244 (GRCm39)	missense	probably benign	0.00
IGL01603:Spef2	APN	15	9,704,466 (GRCm39)	missense	probably damaging	0.99
IGL02320:Spef2	APN	15	9,717,662 (GRCm39)	missense	probably damaging	0.99
IGL02570:Spef2	APN	15	9,717,584 (GRCm39)	nonsense	probably null
IGL02605:Spef2	APN	15	9,725,238 (GRCm39)	missense	probably damaging	0.99
IGL02890:Spef2	APN	15	9,748,853 (GRCm39)	start codon destroyed	probably null	1.00
IGL02904:Spef2	APN	15	9,679,432 (GRCm39)	missense	probably damaging	1.00
IGL02942:Spef2	APN	15	9,668,960 (GRCm39)	missense	possibly damaging	0.71
IGL02953:Spef2	APN	15	9,713,329 (GRCm39)	missense	possibly damaging	0.82
IGL02965:Spef2	APN	15	9,725,192 (GRCm39)	splice site	probably benign
IGL03263:Spef2	APN	15	9,667,305 (GRCm39)	missense	possibly damaging	0.72
IGL03302:Spef2	APN	15	9,676,466 (GRCm39)	missense	probably benign	0.01
R0101:Spef2	UTSW	15	9,713,194 (GRCm39)	missense	probably damaging	1.00
R0101:Spef2	UTSW	15	9,713,194 (GRCm39)	missense	probably damaging	1.00
R0183:Spef2	UTSW	15	9,716,445 (GRCm39)	missense	possibly damaging	0.70
R0386:Spef2	UTSW	15	9,584,148 (GRCm39)	missense	probably damaging	1.00
R0511:Spef2	UTSW	15	9,584,070 (GRCm39)	critical splice donor site	probably null
R0617:Spef2	UTSW	15	9,592,844 (GRCm39)	missense	probably damaging	1.00
R0655:Spef2	UTSW	15	9,626,217 (GRCm39)	missense	possibly damaging	0.96
R0829:Spef2	UTSW	15	9,687,899 (GRCm39)	missense	probably benign	0.10
R0908:Spef2	UTSW	15	9,614,281 (GRCm39)	splice site	probably null
R0939:Spef2	UTSW	15	9,704,636 (GRCm39)	splice site	probably null
R0973:Spef2	UTSW	15	9,716,482 (GRCm39)	missense	probably damaging	1.00
R1371:Spef2	UTSW	15	9,725,194 (GRCm39)	splice site	probably benign
R1392:Spef2	UTSW	15	9,647,349 (GRCm39)	missense	probably benign	0.15
R1392:Spef2	UTSW	15	9,647,349 (GRCm39)	missense	probably benign	0.15
R1428:Spef2	UTSW	15	9,596,793 (GRCm39)	unclassified	probably benign
R1518:Spef2	UTSW	15	9,667,316 (GRCm39)	missense	probably damaging	1.00
R1585:Spef2	UTSW	15	9,596,660 (GRCm39)	missense	probably damaging	1.00
R1654:Spef2	UTSW	15	9,634,738 (GRCm39)	missense	probably damaging	0.99
R1723:Spef2	UTSW	15	9,614,295 (GRCm39)	missense	probably damaging	1.00
R1757:Spef2	UTSW	15	9,717,568 (GRCm39)	missense	probably damaging	1.00
R1812:Spef2	UTSW	15	9,679,435 (GRCm39)	missense	probably damaging	1.00
R1817:Spef2	UTSW	15	9,584,194 (GRCm39)	missense	probably damaging	0.96
R1818:Spef2	UTSW	15	9,584,194 (GRCm39)	missense	probably damaging	0.96
R1873:Spef2	UTSW	15	9,584,194 (GRCm39)	missense	probably damaging	0.96
R1875:Spef2	UTSW	15	9,597,487 (GRCm39)	missense	possibly damaging	0.78
R1875:Spef2	UTSW	15	9,584,194 (GRCm39)	missense	probably damaging	0.96
R1897:Spef2	UTSW	15	9,729,740 (GRCm39)	nonsense	probably null
R1901:Spef2	UTSW	15	9,607,463 (GRCm39)	missense	probably damaging	1.00
R1902:Spef2	UTSW	15	9,607,463 (GRCm39)	missense	probably damaging	1.00
R1943:Spef2	UTSW	15	9,663,280 (GRCm39)	missense	possibly damaging	0.76
R1968:Spef2	UTSW	15	9,609,602 (GRCm39)	missense	probably damaging	1.00
R1973:Spef2	UTSW	15	9,663,152 (GRCm39)	makesense	probably null
R1998:Spef2	UTSW	15	9,668,989 (GRCm39)	critical splice acceptor site	probably null
R1999:Spef2	UTSW	15	9,668,989 (GRCm39)	critical splice acceptor site	probably null
R2008:Spef2	UTSW	15	9,713,271 (GRCm39)	missense	possibly damaging	0.95
R2111:Spef2	UTSW	15	9,589,659 (GRCm39)	missense	probably damaging	1.00
R2405:Spef2	UTSW	15	9,626,120 (GRCm39)	nonsense	probably null
R2517:Spef2	UTSW	15	9,725,283 (GRCm39)	missense	possibly damaging	0.93
R2889:Spef2	UTSW	15	9,630,699 (GRCm39)	missense	probably damaging	0.99
R2988:Spef2	UTSW	15	9,682,709 (GRCm39)	missense	probably benign	0.43
R3792:Spef2	UTSW	15	9,704,622 (GRCm39)	missense	probably damaging	1.00
R4154:Spef2	UTSW	15	9,626,107 (GRCm39)	missense	probably benign	0.13
R4159:Spef2	UTSW	15	9,676,407 (GRCm39)	missense	probably damaging	1.00
R4199:Spef2	UTSW	15	9,667,366 (GRCm39)	missense	probably damaging	1.00
R4320:Spef2	UTSW	15	9,679,429 (GRCm39)	missense	possibly damaging	0.93
R4321:Spef2	UTSW	15	9,679,429 (GRCm39)	missense	possibly damaging	0.93
R4568:Spef2	UTSW	15	9,647,303 (GRCm39)	missense	probably damaging	1.00
R4625:Spef2	UTSW	15	9,647,524 (GRCm39)	missense	probably damaging	1.00
R4669:Spef2	UTSW	15	9,676,459 (GRCm39)	missense	probably benign	0.42
R4684:Spef2	UTSW	15	9,647,576 (GRCm39)	missense	probably benign	0.44
R4761:Spef2	UTSW	15	9,653,040 (GRCm39)	missense	probably damaging	1.00
R4839:Spef2	UTSW	15	9,713,264 (GRCm39)	nonsense	probably null
R5004:Spef2	UTSW	15	9,578,413 (GRCm39)	missense	probably benign	0.02
R5157:Spef2	UTSW	15	9,668,877 (GRCm39)	nonsense	probably null
R5230:Spef2	UTSW	15	9,667,316 (GRCm39)	missense	possibly damaging	0.62
R5315:Spef2	UTSW	15	9,596,777 (GRCm39)	missense	probably damaging	0.98
R5400:Spef2	UTSW	15	9,614,367 (GRCm39)	missense	probably damaging	1.00
R5591:Spef2	UTSW	15	9,583,922 (GRCm39)	missense	probably benign	0.02
R5599:Spef2	UTSW	15	9,729,789 (GRCm39)	missense	possibly damaging	0.53
R5605:Spef2	UTSW	15	9,609,606 (GRCm39)	missense	probably damaging	0.96
R5787:Spef2	UTSW	15	9,748,812 (GRCm39)	missense	possibly damaging	0.91
R5939:Spef2	UTSW	15	9,614,301 (GRCm39)	missense	probably benign	0.16
R6177:Spef2	UTSW	15	9,727,618 (GRCm39)	missense	possibly damaging	0.89
R6641:Spef2	UTSW	15	9,626,059 (GRCm39)	missense	probably damaging	1.00
R6665:Spef2	UTSW	15	9,600,604 (GRCm39)	critical splice donor site	probably null
R6944:Spef2	UTSW	15	9,592,835 (GRCm39)	missense	probably damaging	1.00
R6956:Spef2	UTSW	15	9,685,021 (GRCm39)	missense	probably damaging	1.00
R6968:Spef2	UTSW	15	9,597,426 (GRCm39)	missense	probably benign	0.02
R7089:Spef2	UTSW	15	9,725,257 (GRCm39)	missense	probably damaging	1.00
R7117:Spef2	UTSW	15	9,729,924 (GRCm39)	missense	probably damaging	1.00
R7161:Spef2	UTSW	15	9,717,689 (GRCm39)	missense	probably benign	0.29
R7223:Spef2	UTSW	15	9,601,726 (GRCm39)	missense	unknown
R7263:Spef2	UTSW	15	9,653,098 (GRCm39)	splice site	probably null
R7270:Spef2	UTSW	15	9,600,066 (GRCm39)	critical splice donor site	probably null
R7303:Spef2	UTSW	15	9,647,576 (GRCm39)	missense	possibly damaging	0.92
R7369:Spef2	UTSW	15	9,584,293 (GRCm39)	missense	probably benign	0.02
R7464:Spef2	UTSW	15	9,740,671 (GRCm39)	missense	probably benign	0.23
R7498:Spef2	UTSW	15	9,727,625 (GRCm39)	missense	probably benign
R7587:Spef2	UTSW	15	9,713,305 (GRCm39)	missense	probably damaging	1.00
R7748:Spef2	UTSW	15	9,653,031 (GRCm39)	missense	probably damaging	0.98
R7772:Spef2	UTSW	15	9,704,567 (GRCm39)	missense	probably damaging	0.99
R7838:Spef2	UTSW	15	9,609,637 (GRCm39)	missense	possibly damaging	0.53
R7854:Spef2	UTSW	15	9,596,730 (GRCm39)	missense	possibly damaging	0.77
R7855:Spef2	UTSW	15	9,687,981 (GRCm39)	missense	possibly damaging	0.53
R7889:Spef2	UTSW	15	9,717,649 (GRCm39)	missense	probably damaging	1.00
R7943:Spef2	UTSW	15	9,601,171 (GRCm39)	missense	unknown
R8105:Spef2	UTSW	15	9,682,748 (GRCm39)	missense	probably benign	0.06
R8151:Spef2	UTSW	15	9,601,598 (GRCm39)	missense	unknown
R8296:Spef2	UTSW	15	9,727,629 (GRCm39)	missense	probably benign	0.06
R8393:Spef2	UTSW	15	9,676,615 (GRCm39)	missense	probably benign	0.27
R8405:Spef2	UTSW	15	9,612,643 (GRCm39)	missense	probably benign	0.00
R8552:Spef2	UTSW	15	9,600,765 (GRCm39)	intron	probably benign
R8691:Spef2	UTSW	15	9,602,005 (GRCm39)	nonsense	probably null
R8751:Spef2	UTSW	15	9,729,723 (GRCm39)	nonsense	probably null
R8847:Spef2	UTSW	15	9,668,913 (GRCm39)	missense	probably benign
R8864:Spef2	UTSW	15	9,599,833 (GRCm39)	missense	unknown
R8868:Spef2	UTSW	15	9,729,747 (GRCm39)	missense	possibly damaging	0.53
R8916:Spef2	UTSW	15	9,725,266 (GRCm39)	nonsense	probably null
R8935:Spef2	UTSW	15	9,607,436 (GRCm39)	missense	probably damaging	0.98
R8961:Spef2	UTSW	15	9,647,414 (GRCm39)	missense	possibly damaging	0.92
R8978:Spef2	UTSW	15	9,725,263 (GRCm39)	missense	possibly damaging	0.81
R9062:Spef2	UTSW	15	9,601,717 (GRCm39)	missense	unknown
R9076:Spef2	UTSW	15	9,653,091 (GRCm39)	missense	probably benign	0.13
R9149:Spef2	UTSW	15	9,717,568 (GRCm39)	missense	probably damaging	1.00
R9162:Spef2	UTSW	15	9,602,017 (GRCm39)	missense	unknown
R9216:Spef2	UTSW	15	9,647,611 (GRCm39)	missense	probably damaging	1.00
R9240:Spef2	UTSW	15	9,578,401 (GRCm39)	nonsense	probably null
R9278:Spef2	UTSW	15	9,727,495 (GRCm39)	critical splice donor site	probably null
R9341:Spef2	UTSW	15	9,713,190 (GRCm39)	missense	probably damaging	1.00
R9343:Spef2	UTSW	15	9,713,190 (GRCm39)	missense	probably damaging	1.00
R9389:Spef2	UTSW	15	9,725,307 (GRCm39)	missense	probably damaging	0.96
R9476:Spef2	UTSW	15	9,713,203 (GRCm39)	missense	probably damaging	1.00
R9510:Spef2	UTSW	15	9,713,203 (GRCm39)	missense	probably damaging	1.00
R9537:Spef2	UTSW	15	9,601,885 (GRCm39)	missense	unknown
R9575:Spef2	UTSW	15	9,596,672 (GRCm39)	missense	probably damaging	1.00
R9597:Spef2	UTSW	15	9,599,897 (GRCm39)	missense	unknown
R9765:Spef2	UTSW	15	9,601,945 (GRCm39)	missense	unknown
X0025:Spef2	UTSW	15	9,596,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGTAGTGTGACTAGGAAGC -3'
(R):5'- ACCAACACTTCACCTGCTGG -3'

Sequencing Primer
(F):5'- TGAGCATAAAATAACACCCAGAAGG -3'
(R):5'- CTGGGTTTGCAGTTTGATCAGAATG -3'

Posted On

2014-09-17