Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Spata31f1a'

677870

Institutional Source

Beutler Lab

Gene Symbol

Spata31f1a

Ensembl Gene

ENSMUSG00000078721

Gene Name

spermatogenesis associated 31 subfamily F member 1A

Synonyms

Fam205a1, Gm12429

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8894 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42848071-42853888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42853688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 47 (C47R)

Ref Sequence

ENSEMBL: ENSMUSP00000103613 (fasta)

Gene Model

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

AlphaFold

D3YZF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107979
AA Change: C47R

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: C47R

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

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly 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
R3722:Spata31f1a	UTSW	4	42,851,472 (GRCm39)	missense	probably benign	0.01
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
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'- TGGGAGATCTGAGATAATGCTAATC -3'
(R):5'- CTGGTCTCCTCATGCTGATG -3'

Sequencing Primer
(F):5'- TGGTTTACAACTCATAAACATTCTGG -3'
(R):5'- TCATGCTGATGAGGTGCAGAGC -3'

Posted On

2021-08-02