Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Spata31f3'

225032

Institutional Source

Beutler Lab

Gene Symbol

Spata31f3

Ensembl Gene

ENSMUSG00000050141

Gene Name

spermatogenesis associated 31 subfamily F member 3

Synonyms

BC049635, Fam205c

MMRRC Submission

040049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42868004-42874234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42874030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 46 (C46Y)

Ref Sequence

ENSEMBL: ENSMUSP00000103612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]

AlphaFold

Q80YD3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055944
AA Change: C46Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141
AA Change: C46Y

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	51	139	2.7e-31	PFAM
internal_repeat_1	147	168	5.83e-10	PROSPERO
internal_repeat_1	180	201	5.83e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107978
AA Change: C46Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141
AA Change: C46Y

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	138	3.4e-28	PFAM
internal_repeat_1	147	168	5.79e-10	PROSPERO
internal_repeat_1	180	201	5.79e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144112

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly damaging	Het

Other mutations in Spata31f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Spata31f3	APN	4	42,868,564 (GRCm39)	missense	probably benign	0.40
IGL01697:Spata31f3	APN	4	42,874,163 (GRCm39)	missense	probably benign
IGL02413:Spata31f3	APN	4	42,868,549 (GRCm39)	missense	probably damaging	0.99
IGL02450:Spata31f3	APN	4	42,874,127 (GRCm39)	missense	probably benign
R0433:Spata31f3	UTSW	4	42,874,013 (GRCm39)	splice site	probably benign
R1580:Spata31f3	UTSW	4	42,874,020 (GRCm39)	splice site	probably null
R2102:Spata31f3	UTSW	4	42,868,558 (GRCm39)	missense	probably benign	0.00
R3824:Spata31f3	UTSW	4	42,873,492 (GRCm39)	critical splice donor site	probably null
R4192:Spata31f3	UTSW	4	42,874,185 (GRCm39)	utr 5 prime	probably benign
R4668:Spata31f3	UTSW	4	42,871,608 (GRCm39)	missense	probably benign	0.00
R4690:Spata31f3	UTSW	4	42,873,032 (GRCm39)	splice site	probably null
R5743:Spata31f3	UTSW	4	42,873,087 (GRCm39)	missense	probably damaging	0.99
R5868:Spata31f3	UTSW	4	42,871,711 (GRCm39)	missense	probably damaging	0.96
R6186:Spata31f3	UTSW	4	42,872,000 (GRCm39)	missense	possibly damaging	0.95
R6778:Spata31f3	UTSW	4	42,868,522 (GRCm39)	missense	possibly damaging	0.94
R6986:Spata31f3	UTSW	4	42,868,696 (GRCm39)	missense	possibly damaging	0.90
R7318:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7413:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7675:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7785:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7842:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R8125:Spata31f3	UTSW	4	42,873,051 (GRCm39)	missense	probably damaging	0.99
R8808:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R8954:Spata31f3	UTSW	4	42,871,753 (GRCm39)	missense	probably damaging	0.98
R9343:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R9620:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
RF040:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
X0052:Spata31f3	UTSW	4	42,874,047 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- ACCAAAGGACTTCAGTTATCAAAGG -3'
(R):5'- GCCAAACTCTAGAACTCAGGG -3'

Sequencing Primer
(F):5'- CAAAGGACATAAATGTCCAC -3'
(R):5'- AACTCAGGGGCATTGCATTC -3'

Posted On

2014-08-25