Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Spata31f1a'

258951

Institutional Source

Beutler Lab

Gene Symbol

Spata31f1a

Ensembl Gene

ENSMUSG00000078721

Gene Name

spermatogenesis associated 31 subfamily F member 1A

Synonyms

Fam205a1, Gm12429

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R3722 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

42848071-42853888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42851472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 228 (E228G)

Ref Sequence

ENSEMBL: ENSMUSP00000103613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107979] [ENSMUST00000107981]

AlphaFold

D3YZF6

Predicted Effect

probably benign
Transcript: ENSMUST00000107979
AA Change: E228G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: E228G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	137	5e-26	PFAM
low complexity region	169	179	N/A	INTRINSIC
internal_repeat_1	278	314	8.5e-5	PROSPERO
Pfam:FAM75	409	493	4.3e-10	PFAM
Pfam:FAM75	453	628	1.2e-12	PFAM
low complexity region	1160	1172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107981

SMART Domains

Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

Domain	Start	End	E-Value	Type
Pfam:DUF4599	1	56	1.4e-15	PFAM
low complexity region	87	104	N/A	INTRINSIC
Pfam:FAM75	157	279	9.4e-9	PFAM
Pfam:FAM75	322	366	6.1e-10	PFAM
Pfam:FAM75	365	543	8.3e-11	PFAM
low complexity region	882	895	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	probably damaging	Het

Other mutations in Spata31f1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Spata31f1a	APN	4	42,850,963 (GRCm39)	missense	probably benign	0.04
IGL01369:Spata31f1a	APN	4	42,852,548 (GRCm39)	splice site	probably null
IGL02737:Spata31f1a	APN	4	42,849,431 (GRCm39)	missense	possibly damaging	0.90
IGL02951:Spata31f1a	APN	4	42,850,696 (GRCm39)	missense	probably benign	0.03
IGL03190:Spata31f1a	APN	4	42,848,362 (GRCm39)	missense	probably benign	0.20
IGL03407:Spata31f1a	APN	4	42,850,528 (GRCm39)	missense	probably benign	0.00
R0285:Spata31f1a	UTSW	4	42,850,236 (GRCm39)	missense	probably benign	0.00
R0345:Spata31f1a	UTSW	4	42,851,116 (GRCm39)	missense	probably benign	0.00
R0373:Spata31f1a	UTSW	4	42,851,161 (GRCm39)	missense	probably benign	0.00
R0763:Spata31f1a	UTSW	4	42,851,238 (GRCm39)	missense	probably damaging	1.00
R1668:Spata31f1a	UTSW	4	42,848,424 (GRCm39)	missense	probably damaging	0.99
R2406:Spata31f1a	UTSW	4	42,851,696 (GRCm39)	missense	probably benign
R4820:Spata31f1a	UTSW	4	42,851,815 (GRCm39)	missense	probably damaging	1.00
R5168:Spata31f1a	UTSW	4	42,851,488 (GRCm39)	missense	probably damaging	0.99
R6170:Spata31f1a	UTSW	4	42,849,345 (GRCm39)	missense	probably benign	0.00
R6249:Spata31f1a	UTSW	4	42,850,528 (GRCm39)	missense	probably benign	0.00
R6357:Spata31f1a	UTSW	4	42,850,393 (GRCm39)	missense	probably damaging	1.00
R6496:Spata31f1a	UTSW	4	42,848,424 (GRCm39)	missense	probably damaging	0.99
R6894:Spata31f1a	UTSW	4	42,850,291 (GRCm39)	missense	probably benign	0.33
R7079:Spata31f1a	UTSW	4	42,851,718 (GRCm39)	missense	probably benign	0.17
R7881:Spata31f1a	UTSW	4	42,851,586 (GRCm39)	missense	probably benign	0.00
R7904:Spata31f1a	UTSW	4	42,850,765 (GRCm39)	missense	possibly damaging	0.53
R7938:Spata31f1a	UTSW	4	42,850,765 (GRCm39)	missense	possibly damaging	0.53
R8017:Spata31f1a	UTSW	4	42,850,840 (GRCm39)	missense	probably damaging	1.00
R8210:Spata31f1a	UTSW	4	42,848,542 (GRCm39)	missense	probably benign	0.00
R8385:Spata31f1a	UTSW	4	42,850,509 (GRCm39)	missense	possibly damaging	0.80
R8894:Spata31f1a	UTSW	4	42,853,688 (GRCm39)	missense	possibly damaging	0.87
R8981:Spata31f1a	UTSW	4	42,849,354 (GRCm39)	missense	probably benign	0.00
R9448:Spata31f1a	UTSW	4	42,850,250 (GRCm39)	nonsense	probably null
R9488:Spata31f1a	UTSW	4	42,850,560 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACCGTTGGAAATGCATCAG -3'
(R):5'- ACAAACTCTCCAGTGGTGC -3'

Sequencing Primer
(F):5'- TCTCCAAAAGCCTTAATACTTCGGG -3'
(R):5'- TCCAGTGGTGCCGGGAAAC -3'

Posted On

2015-01-23