Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Spata31d1b'

710284

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1b

Ensembl Gene

ENSMUSG00000091311

Gene Name

spermatogenesis associated 31 subfamily D, member 1B

Synonyms

Fam75d1b, Gm4934

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59712284-59719295 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59715589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 184 (S184P)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165133]

AlphaFold

E9QA57

Predicted Effect

probably damaging
Transcript: ENSMUST00000165133
AA Change: S184P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: S184P

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	65	149	3.9e-10	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	206	229	N/A	INTRINSIC
low complexity region	352	360	N/A	INTRINSIC
Pfam:FAM75	402	774	1.1e-116	PFAM
low complexity region	883	895	N/A	INTRINSIC
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1152	1162	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably damaging	Het

Other mutations in Spata31d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Spata31d1b	APN	13	59712466	missense	probably benign	0.06
IGL02317:Spata31d1b	APN	13	59718040	missense	probably damaging	0.99
IGL02885:Spata31d1b	APN	13	59719127	utr 3 prime	probably benign
R0017:Spata31d1b	UTSW	13	59716069	missense	probably benign
R0071:Spata31d1b	UTSW	13	59715349	missense	probably benign	0.26
R0071:Spata31d1b	UTSW	13	59715349	missense	probably benign	0.26
R0595:Spata31d1b	UTSW	13	59716277	missense	probably benign	0.09
R0961:Spata31d1b	UTSW	13	59717804	missense	possibly damaging	0.91
R1054:Spata31d1b	UTSW	13	59717518	missense	probably damaging	0.96
R1124:Spata31d1b	UTSW	13	59716654	missense	probably benign
R1338:Spata31d1b	UTSW	13	59718161	frame shift	probably null
R1539:Spata31d1b	UTSW	13	59715919	missense	possibly damaging	0.46
R1662:Spata31d1b	UTSW	13	59716628	missense	probably benign	0.00
R1688:Spata31d1b	UTSW	13	59715460	missense	possibly damaging	0.61
R1776:Spata31d1b	UTSW	13	59716567	missense	probably benign
R1793:Spata31d1b	UTSW	13	59715965	missense	probably benign
R1838:Spata31d1b	UTSW	13	59715857	missense	probably benign
R1838:Spata31d1b	UTSW	13	59717465	missense	probably benign	0.00
R1861:Spata31d1b	UTSW	13	59717336	missense	possibly damaging	0.64
R1903:Spata31d1b	UTSW	13	59718068	missense	probably damaging	0.99
R1940:Spata31d1b	UTSW	13	59718021	missense	possibly damaging	0.91
R1994:Spata31d1b	UTSW	13	59716380	missense	probably benign
R1995:Spata31d1b	UTSW	13	59716380	missense	probably benign
R2407:Spata31d1b	UTSW	13	59716846	missense	possibly damaging	0.64
R3692:Spata31d1b	UTSW	13	59717891	missense	probably benign	0.03
R4576:Spata31d1b	UTSW	13	59716861	missense	probably damaging	0.98
R4734:Spata31d1b	UTSW	13	59718358	missense	probably damaging	1.00
R4742:Spata31d1b	UTSW	13	59716612	missense	probably damaging	0.98
R4749:Spata31d1b	UTSW	13	59718358	missense	probably damaging	1.00
R4806:Spata31d1b	UTSW	13	59715721	missense	probably benign	0.32
R4808:Spata31d1b	UTSW	13	59715721	missense	probably benign	0.32
R4844:Spata31d1b	UTSW	13	59718355	missense	possibly damaging	0.85
R4942:Spata31d1b	UTSW	13	59717103	missense	possibly damaging	0.70
R4953:Spata31d1b	UTSW	13	59716283	missense	probably damaging	0.96
R5093:Spata31d1b	UTSW	13	59716024	missense	possibly damaging	0.84
R5169:Spata31d1b	UTSW	13	59716495	missense	probably damaging	1.00
R5384:Spata31d1b	UTSW	13	59718218	missense	possibly damaging	0.68
R5386:Spata31d1b	UTSW	13	59719052	missense	possibly damaging	0.95
R5502:Spata31d1b	UTSW	13	59716672	missense	probably damaging	1.00
R5751:Spata31d1b	UTSW	13	59718973	missense	probably benign	0.03
R6054:Spata31d1b	UTSW	13	59715650	missense	probably benign
R6433:Spata31d1b	UTSW	13	59717185	missense	probably damaging	0.99
R6571:Spata31d1b	UTSW	13	59717455	missense	probably benign
R6980:Spata31d1b	UTSW	13	59715422	missense	probably benign	0.26
R7047:Spata31d1b	UTSW	13	59712435	missense	probably damaging	1.00
R7064:Spata31d1b	UTSW	13	59716141	missense	probably benign
R7147:Spata31d1b	UTSW	13	59718214	missense	probably benign	0.28
R7273:Spata31d1b	UTSW	13	59717632	missense	probably benign
R7359:Spata31d1b	UTSW	13	59712490	missense	probably damaging	1.00
R7457:Spata31d1b	UTSW	13	59716909	missense	probably damaging	0.99
R7469:Spata31d1b	UTSW	13	59715464	missense	probably benign	0.04
R7519:Spata31d1b	UTSW	13	59716912	missense	probably benign	0.43
R7548:Spata31d1b	UTSW	13	59716654	missense	probably benign
R7586:Spata31d1b	UTSW	13	59718380	missense	probably damaging	1.00
R7657:Spata31d1b	UTSW	13	59715763	missense	possibly damaging	0.46
R7778:Spata31d1b	UTSW	13	59717233	missense	possibly damaging	0.65
R7824:Spata31d1b	UTSW	13	59717233	missense	possibly damaging	0.65
R7989:Spata31d1b	UTSW	13	59718368	missense	possibly damaging	0.94
R8078:Spata31d1b	UTSW	13	59715449	missense	probably damaging	0.99
R8176:Spata31d1b	UTSW	13	59717303	missense	probably benign
R8530:Spata31d1b	UTSW	13	59717150	missense	unknown
R8776:Spata31d1b	UTSW	13	59715469	missense	probably benign	0.00
R8776-TAIL:Spata31d1b	UTSW	13	59715469	missense	probably benign	0.00
R9476:Spata31d1b	UTSW	13	59715653	missense	probably benign	0.08
R9522:Spata31d1b	UTSW	13	59716966	missense	probably benign	0.00
R9786:Spata31d1b	UTSW	13	59718341	missense	possibly damaging	0.56
R9789:Spata31d1b	UTSW	13	59712382	missense	probably benign	0.03
Z1177:Spata31d1b	UTSW	13	59712409	missense	probably damaging	1.00
Z1177:Spata31d1b	UTSW	13	59715451	missense	probably benign	0.44
Z1177:Spata31d1b	UTSW	13	59718860	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCTGGCAATATCAGTCATCAGC -3'
(R):5'- CTGTCCACCAGAGATCTCATGG -3'

Sequencing Primer
(F):5'- AGTCATCAGCTCTCCCAGG -3'
(R):5'- ACCAGAGATCTCATGGTTTCCAG -3'

Posted On

2022-04-18