Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Spef2'

565254

Institutional Source

Beutler Lab

Gene Symbol

Spef2

Ensembl Gene

ENSMUSG00000072663

Gene Name

sperm flagellar 2

Synonyms

C230086A09Rik

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

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

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9578279-9748954 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 9600066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000208854

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	probably damaging	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
R2127:Spef2	UTSW	15	9,729,747 (GRCm39)	missense	possibly damaging	0.53
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
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'- AACAAGCATCAGGACACTTGG -3'
(R):5'- AATCAAGGTAACCTATAGGCGCC -3'

Sequencing Primer
(F):5'- GCATCAGGACACTTGGATATTTATGG -3'
(R):5'- GCCAATAAGCCAGTGCCTTTTG -3'

Posted On

2019-06-26