Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Spef2'

561973

Institutional Source

Beutler Lab

Gene Symbol

Spef2

Ensembl Gene

ENSMUSG00000072663

Gene Name

sperm flagellar 2

Synonyms

C230086A09Rik

MMRRC Submission

045295-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9578193-9748868 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9601640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1512 (V1512E)

Ref Sequence

ENSEMBL: ENSMUSP00000146967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160236] [ENSMUST00000208854]

AlphaFold

Q8C9J3

Predicted Effect

probably benign
Transcript: ENSMUST00000160236

SMART Domains

Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663

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

unknown
Transcript: ENSMUST00000208854
AA Change: V1512E

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,274,143 (GRCm38)	V733E	probably benign	Het
Adam34	A	T	8: 43,652,004 (GRCm38)	N201K	probably benign	Het
Aldh3b2	A	C	19: 3,979,592 (GRCm38)	S322R	probably damaging	Het
Anpep	A	T	7: 79,825,310 (GRCm38)	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,407,571 (GRCm38)	F535S	probably damaging	Het
Baiap3	G	A	17: 25,243,840 (GRCm38)	R1075C	probably benign	Het
Baz2a	G	T	10: 128,112,606 (GRCm38)	G252V	probably damaging	Het
Brinp3	T	A	1: 146,901,074 (GRCm38)	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,496,238 (GRCm38)	F359S	possibly damaging	Het
Ccdc124	A	T	8: 70,868,526 (GRCm38)	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,256,140 (GRCm38)	V59A	probably damaging	Het
Ccr8	T	A	9: 120,094,617 (GRCm38)	I266N	probably damaging	Het
Cdh23	T	A	10: 60,331,817 (GRCm38)	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,235,447 (GRCm38)	N1713S	probably benign	Het
Cep19	T	A	16: 32,104,015 (GRCm38)	I33N	probably damaging	Het
Cers3	A	T	7: 66,783,415 (GRCm38)	Y196F	probably damaging	Het
Cidea	T	C	18: 67,366,421 (GRCm38)	I126T	probably damaging	Het
Copg2	A	T	6: 30,812,754 (GRCm38)	Y546*	probably null	Het
Cul3	A	T	1: 80,287,000 (GRCm38)	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,814,632 (GRCm38)	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,915,097 (GRCm38)	H390Y	probably damaging	Het
Daam1	T	C	12: 71,988,943 (GRCm38)	F971L	probably damaging	Het
Dnajc24	G	A	2: 106,001,966 (GRCm38)	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,438,042 (GRCm38)	S56G	probably benign	Het
Esp1	A	G	17: 40,731,081 (GRCm38)	D88G	probably benign	Het
Fam171b	A	G	2: 83,878,230 (GRCm38)	T359A	probably damaging	Het
Fam186b	T	C	15: 99,279,837 (GRCm38)	E536G	possibly damaging	Het
Fbxo3	T	C	2: 104,043,012 (GRCm38)	V156A	possibly damaging	Het
Gls2	C	A	10: 128,199,194 (GRCm38)	H65Q	probably benign	Het
Gp2	A	G	7: 119,451,498 (GRCm38)		probably null	Het
Gpcpd1	T	A	2: 132,534,056 (GRCm38)	K435I	probably benign	Het
Gpx6	T	A	13: 21,317,670 (GRCm38)		probably null	Het
Hps3	A	T	3: 20,030,419 (GRCm38)	S202T	probably benign	Het
Htr1d	T	A	4: 136,443,501 (GRCm38)	L347H	probably damaging	Het
Igfals	T	C	17: 24,881,234 (GRCm38)	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,583,696 (GRCm38)	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,628,972 (GRCm38)	M1530K	probably damaging	Het
Jarid2	A	G	13: 44,896,322 (GRCm38)	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,074,009 (GRCm38)	V323I	possibly damaging	Het
Lama3	C	T	18: 12,582,608 (GRCm38)	T1707I	possibly damaging	Het
Map6	G	T	7: 99,268,025 (GRCm38)	A2S	probably damaging	Het
Mfap3	T	A	11: 57,530,240 (GRCm38)	I349K	probably benign	Het
Mybl2	A	G	2: 163,072,705 (GRCm38)	T248A	probably benign	Het
N6amt1	A	G	16: 87,362,660 (GRCm38)	*151W	probably null	Het
Nhlrc1	A	G	13: 47,014,208 (GRCm38)	V191A	probably benign	Het
Nkx2-5	T	C	17: 26,839,620 (GRCm38)	E120G	possibly damaging	Het
Or2y10	T	A	11: 49,564,098 (GRCm38)	M59K	probably damaging	Het
Or52r1b	C	A	7: 103,041,632 (GRCm38)	T46N	possibly damaging	Het
Or8b41	T	C	9: 38,143,753 (GRCm38)	V201A	probably benign	Het
Or8k28	T	A	2: 86,455,867 (GRCm38)	I135F	possibly damaging	Het
Pcdha8	T	G	18: 36,993,148 (GRCm38)	L228V	probably benign	Het
Pcsk2	A	G	2: 143,690,333 (GRCm38)	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,624,653 (GRCm38)	R484Q	probably benign	Het
Pipox	A	G	11: 77,881,186 (GRCm38)	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,873,343 (GRCm38)	S159P		Het
Psme4	C	T	11: 30,874,226 (GRCm38)	P1737S	probably benign	Het
Pygm	G	A	19: 6,388,863 (GRCm38)	D328N	probably benign	Het
Rabgef1	A	T	5: 130,190,960 (GRCm38)	E88V	probably benign	Het
Rims2	G	T	15: 39,437,032 (GRCm38)	R245L	probably benign	Het
Slc38a4	T	C	15: 97,010,345 (GRCm38)	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,268,665 (GRCm38)	Y586N	probably damaging	Het
Snap91	C	T	9: 86,879,557 (GRCm38)		probably benign	Het
Sorcs1	C	T	19: 50,190,042 (GRCm38)	V881I	probably benign	Het
Sufu	T	C	19: 46,453,277 (GRCm38)	I292T	possibly damaging	Het
Tet1	T	C	10: 62,813,671 (GRCm38)	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,499,534 (GRCm38)	T239A	not run	Het
Tmem121	A	T	12: 113,188,494 (GRCm38)	K111*	probably null	Het
Tpp2	T	A	1: 43,968,888 (GRCm38)	D417E	probably damaging	Het
Tpr	G	A	1: 150,439,256 (GRCm38)	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,275,152 (GRCm38)	A145V	possibly damaging	Het
Ttn	T	C	2: 76,890,981 (GRCm38)	D6754G	probably null	Het
Unc13c	T	A	9: 73,629,191 (GRCm38)	M1627L	probably benign	Het
Ush2a	A	G	1: 188,810,217 (GRCm38)	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,846,967 (GRCm38)	Q65*	probably null	Het
Wdr18	G	A	10: 79,960,368 (GRCm38)	R69H	probably damaging	Het
Zbed5	G	T	5: 129,900,438 (GRCm38)	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,637,582 (GRCm38)	Y366*	probably null	Het
Zfyve26	T	C	12: 79,246,171 (GRCm38)	N2068S	probably damaging	Het
Zic2	T	C	14: 122,476,091 (GRCm38)	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,710,162 (GRCm38)	Q141R	probably benign	Het
Zrsr2-ps1	A	G	11: 22,973,388 (GRCm38)	E54G	probably benign	Het
Zscan10	G	A	17: 23,609,482 (GRCm38)	D333N	probably benign	Het

Other mutations in Spef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Spef2	APN	15	9,740,535 (GRCm38)	missense	probably damaging	1.00
IGL00886:Spef2	APN	15	9,663,095 (GRCm38)	missense	probably damaging	1.00
IGL01409:Spef2	APN	15	9,716,413 (GRCm38)	missense	probably damaging	1.00
IGL01413:Spef2	APN	15	9,676,290 (GRCm38)	missense	probably benign	0.16
IGL01474:Spef2	APN	15	9,663,158 (GRCm38)	missense	probably benign	0.00
IGL01603:Spef2	APN	15	9,704,380 (GRCm38)	missense	probably damaging	0.99
IGL02320:Spef2	APN	15	9,717,576 (GRCm38)	missense	probably damaging	0.99
IGL02570:Spef2	APN	15	9,717,498 (GRCm38)	nonsense	probably null
IGL02605:Spef2	APN	15	9,725,152 (GRCm38)	missense	probably damaging	0.99
IGL02890:Spef2	APN	15	9,748,767 (GRCm38)	start codon destroyed	probably null	1.00
IGL02904:Spef2	APN	15	9,679,346 (GRCm38)	missense	probably damaging	1.00
IGL02942:Spef2	APN	15	9,668,874 (GRCm38)	missense	possibly damaging	0.71
IGL02953:Spef2	APN	15	9,713,243 (GRCm38)	missense	possibly damaging	0.82
IGL02965:Spef2	APN	15	9,725,106 (GRCm38)	splice site	probably benign
IGL03263:Spef2	APN	15	9,667,219 (GRCm38)	missense	possibly damaging	0.72
IGL03302:Spef2	APN	15	9,676,380 (GRCm38)	missense	probably benign	0.01
R0101:Spef2	UTSW	15	9,713,108 (GRCm38)	missense	probably damaging	1.00
R0101:Spef2	UTSW	15	9,713,108 (GRCm38)	missense	probably damaging	1.00
R0183:Spef2	UTSW	15	9,716,359 (GRCm38)	missense	possibly damaging	0.70
R0386:Spef2	UTSW	15	9,584,062 (GRCm38)	missense	probably damaging	1.00
R0511:Spef2	UTSW	15	9,583,984 (GRCm38)	critical splice donor site	probably null
R0617:Spef2	UTSW	15	9,592,758 (GRCm38)	missense	probably damaging	1.00
R0655:Spef2	UTSW	15	9,626,131 (GRCm38)	missense	possibly damaging	0.96
R0829:Spef2	UTSW	15	9,687,813 (GRCm38)	missense	probably benign	0.10
R0908:Spef2	UTSW	15	9,614,195 (GRCm38)	splice site	probably null
R0939:Spef2	UTSW	15	9,704,550 (GRCm38)	splice site	probably null
R0973:Spef2	UTSW	15	9,716,396 (GRCm38)	missense	probably damaging	1.00
R1371:Spef2	UTSW	15	9,725,108 (GRCm38)	splice site	probably benign
R1392:Spef2	UTSW	15	9,647,263 (GRCm38)	missense	probably benign	0.15
R1392:Spef2	UTSW	15	9,647,263 (GRCm38)	missense	probably benign	0.15
R1428:Spef2	UTSW	15	9,596,707 (GRCm38)	unclassified	probably benign
R1518:Spef2	UTSW	15	9,667,230 (GRCm38)	missense	probably damaging	1.00
R1585:Spef2	UTSW	15	9,596,574 (GRCm38)	missense	probably damaging	1.00
R1654:Spef2	UTSW	15	9,634,652 (GRCm38)	missense	probably damaging	0.99
R1723:Spef2	UTSW	15	9,614,209 (GRCm38)	missense	probably damaging	1.00
R1757:Spef2	UTSW	15	9,717,482 (GRCm38)	missense	probably damaging	1.00
R1812:Spef2	UTSW	15	9,679,349 (GRCm38)	missense	probably damaging	1.00
R1817:Spef2	UTSW	15	9,584,108 (GRCm38)	missense	probably damaging	0.96
R1818:Spef2	UTSW	15	9,584,108 (GRCm38)	missense	probably damaging	0.96
R1873:Spef2	UTSW	15	9,584,108 (GRCm38)	missense	probably damaging	0.96
R1875:Spef2	UTSW	15	9,597,401 (GRCm38)	missense	possibly damaging	0.78
R1875:Spef2	UTSW	15	9,584,108 (GRCm38)	missense	probably damaging	0.96
R1897:Spef2	UTSW	15	9,729,654 (GRCm38)	nonsense	probably null
R1901:Spef2	UTSW	15	9,607,377 (GRCm38)	missense	probably damaging	1.00
R1902:Spef2	UTSW	15	9,607,377 (GRCm38)	missense	probably damaging	1.00
R1943:Spef2	UTSW	15	9,663,194 (GRCm38)	missense	possibly damaging	0.76
R1968:Spef2	UTSW	15	9,609,516 (GRCm38)	missense	probably damaging	1.00
R1973:Spef2	UTSW	15	9,663,066 (GRCm38)	makesense	probably null
R1998:Spef2	UTSW	15	9,668,903 (GRCm38)	critical splice acceptor site	probably null
R1999:Spef2	UTSW	15	9,668,903 (GRCm38)	critical splice acceptor site	probably null
R2008:Spef2	UTSW	15	9,713,185 (GRCm38)	missense	possibly damaging	0.95
R2111:Spef2	UTSW	15	9,589,573 (GRCm38)	missense	probably damaging	1.00
R2127:Spef2	UTSW	15	9,729,661 (GRCm38)	missense	possibly damaging	0.53
R2405:Spef2	UTSW	15	9,626,034 (GRCm38)	nonsense	probably null
R2517:Spef2	UTSW	15	9,725,197 (GRCm38)	missense	possibly damaging	0.93
R2889:Spef2	UTSW	15	9,630,613 (GRCm38)	missense	probably damaging	0.99
R2988:Spef2	UTSW	15	9,682,623 (GRCm38)	missense	probably benign	0.43
R3792:Spef2	UTSW	15	9,704,536 (GRCm38)	missense	probably damaging	1.00
R4154:Spef2	UTSW	15	9,626,021 (GRCm38)	missense	probably benign	0.13
R4159:Spef2	UTSW	15	9,676,321 (GRCm38)	missense	probably damaging	1.00
R4199:Spef2	UTSW	15	9,667,280 (GRCm38)	missense	probably damaging	1.00
R4320:Spef2	UTSW	15	9,679,343 (GRCm38)	missense	possibly damaging	0.93
R4321:Spef2	UTSW	15	9,679,343 (GRCm38)	missense	possibly damaging	0.93
R4568:Spef2	UTSW	15	9,647,217 (GRCm38)	missense	probably damaging	1.00
R4625:Spef2	UTSW	15	9,647,438 (GRCm38)	missense	probably damaging	1.00
R4669:Spef2	UTSW	15	9,676,373 (GRCm38)	missense	probably benign	0.42
R4684:Spef2	UTSW	15	9,647,490 (GRCm38)	missense	probably benign	0.44
R4761:Spef2	UTSW	15	9,652,954 (GRCm38)	missense	probably damaging	1.00
R4839:Spef2	UTSW	15	9,713,178 (GRCm38)	nonsense	probably null
R5004:Spef2	UTSW	15	9,578,327 (GRCm38)	missense	probably benign	0.02
R5157:Spef2	UTSW	15	9,668,791 (GRCm38)	nonsense	probably null
R5230:Spef2	UTSW	15	9,667,230 (GRCm38)	missense	possibly damaging	0.62
R5315:Spef2	UTSW	15	9,596,691 (GRCm38)	missense	probably damaging	0.98
R5400:Spef2	UTSW	15	9,614,281 (GRCm38)	missense	probably damaging	1.00
R5591:Spef2	UTSW	15	9,583,836 (GRCm38)	missense	probably benign	0.02
R5599:Spef2	UTSW	15	9,729,703 (GRCm38)	missense	possibly damaging	0.53
R5605:Spef2	UTSW	15	9,609,520 (GRCm38)	missense	probably damaging	0.96
R5787:Spef2	UTSW	15	9,748,726 (GRCm38)	missense	possibly damaging	0.91
R5939:Spef2	UTSW	15	9,614,215 (GRCm38)	missense	probably benign	0.16
R6177:Spef2	UTSW	15	9,727,532 (GRCm38)	missense	possibly damaging	0.89
R6641:Spef2	UTSW	15	9,625,973 (GRCm38)	missense	probably damaging	1.00
R6665:Spef2	UTSW	15	9,600,518 (GRCm38)	critical splice donor site	probably null
R6944:Spef2	UTSW	15	9,592,749 (GRCm38)	missense	probably damaging	1.00
R6956:Spef2	UTSW	15	9,684,935 (GRCm38)	missense	probably damaging	1.00
R6968:Spef2	UTSW	15	9,597,340 (GRCm38)	missense	probably benign	0.02
R7089:Spef2	UTSW	15	9,725,171 (GRCm38)	missense	probably damaging	1.00
R7117:Spef2	UTSW	15	9,729,838 (GRCm38)	missense	probably damaging	1.00
R7161:Spef2	UTSW	15	9,717,603 (GRCm38)	missense	probably benign	0.29
R7263:Spef2	UTSW	15	9,653,012 (GRCm38)	splice site	probably null
R7270:Spef2	UTSW	15	9,599,980 (GRCm38)	critical splice donor site	probably null
R7303:Spef2	UTSW	15	9,647,490 (GRCm38)	missense	possibly damaging	0.92
R7369:Spef2	UTSW	15	9,584,207 (GRCm38)	missense	probably benign	0.02
R7464:Spef2	UTSW	15	9,740,585 (GRCm38)	missense	probably benign	0.23
R7498:Spef2	UTSW	15	9,727,539 (GRCm38)	missense	probably benign
R7587:Spef2	UTSW	15	9,713,219 (GRCm38)	missense	probably damaging	1.00
R7748:Spef2	UTSW	15	9,652,945 (GRCm38)	missense	probably damaging	0.98
R7772:Spef2	UTSW	15	9,704,481 (GRCm38)	missense	probably damaging	0.99
R7838:Spef2	UTSW	15	9,609,551 (GRCm38)	missense	possibly damaging	0.53
R7854:Spef2	UTSW	15	9,596,644 (GRCm38)	missense	possibly damaging	0.77
R7855:Spef2	UTSW	15	9,687,895 (GRCm38)	missense	possibly damaging	0.53
R7889:Spef2	UTSW	15	9,717,563 (GRCm38)	missense	probably damaging	1.00
R7943:Spef2	UTSW	15	9,601,085 (GRCm38)	missense	unknown
R8105:Spef2	UTSW	15	9,682,662 (GRCm38)	missense	probably benign	0.06
R8151:Spef2	UTSW	15	9,601,512 (GRCm38)	missense	unknown
R8296:Spef2	UTSW	15	9,727,543 (GRCm38)	missense	probably benign	0.06
R8393:Spef2	UTSW	15	9,676,529 (GRCm38)	missense	probably benign	0.27
R8405:Spef2	UTSW	15	9,612,557 (GRCm38)	missense	probably benign	0.00
R8552:Spef2	UTSW	15	9,600,679 (GRCm38)	intron	probably benign
R8691:Spef2	UTSW	15	9,601,919 (GRCm38)	nonsense	probably null
R8751:Spef2	UTSW	15	9,729,637 (GRCm38)	nonsense	probably null
R8847:Spef2	UTSW	15	9,668,827 (GRCm38)	missense	probably benign
R8864:Spef2	UTSW	15	9,599,747 (GRCm38)	missense	unknown
R8868:Spef2	UTSW	15	9,729,661 (GRCm38)	missense	possibly damaging	0.53
R8916:Spef2	UTSW	15	9,725,180 (GRCm38)	nonsense	probably null
R8935:Spef2	UTSW	15	9,607,350 (GRCm38)	missense	probably damaging	0.98
R8961:Spef2	UTSW	15	9,647,328 (GRCm38)	missense	possibly damaging	0.92
R8978:Spef2	UTSW	15	9,725,177 (GRCm38)	missense	possibly damaging	0.81
R9062:Spef2	UTSW	15	9,601,631 (GRCm38)	missense	unknown
R9076:Spef2	UTSW	15	9,653,005 (GRCm38)	missense	probably benign	0.13
R9149:Spef2	UTSW	15	9,717,482 (GRCm38)	missense	probably damaging	1.00
R9162:Spef2	UTSW	15	9,601,931 (GRCm38)	missense	unknown
R9216:Spef2	UTSW	15	9,647,525 (GRCm38)	missense	probably damaging	1.00
R9240:Spef2	UTSW	15	9,578,315 (GRCm38)	nonsense	probably null
R9278:Spef2	UTSW	15	9,727,409 (GRCm38)	critical splice donor site	probably null
R9341:Spef2	UTSW	15	9,713,104 (GRCm38)	missense	probably damaging	1.00
R9343:Spef2	UTSW	15	9,713,104 (GRCm38)	missense	probably damaging	1.00
R9389:Spef2	UTSW	15	9,725,221 (GRCm38)	missense	probably damaging	0.96
R9476:Spef2	UTSW	15	9,713,117 (GRCm38)	missense	probably damaging	1.00
R9510:Spef2	UTSW	15	9,713,117 (GRCm38)	missense	probably damaging	1.00
R9537:Spef2	UTSW	15	9,601,799 (GRCm38)	missense	unknown
R9575:Spef2	UTSW	15	9,596,586 (GRCm38)	missense	probably damaging	1.00
R9597:Spef2	UTSW	15	9,599,811 (GRCm38)	missense	unknown
R9765:Spef2	UTSW	15	9,601,859 (GRCm38)	missense	unknown
X0025:Spef2	UTSW	15	9,596,622 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATTCCATCAGTGATGACAGAG -3'
(R):5'- AAGTTTCCTCTATGGCACGGAC -3'

Sequencing Primer
(F):5'- TTCCATCAGTGATGACAGAGAAAAAG -3'
(R):5'- TCTATGGCACGGACAACTTCAGG -3'

Posted On

2019-06-26