Mutagenetix > Incidental Mutation

Incidental Mutation 'R2406:Spata31f1a'

247997

Institutional Source

Beutler Lab

Gene Symbol

Spata31f1a

Ensembl Gene

ENSMUSG00000078721

Gene Name

spermatogenesis associated 31 subfamily F member 1A

Synonyms

Fam205a1, Gm12429

MMRRC Submission

040372-MU

Accession Numbers

Essential gene?

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

Stock #

R2406 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

42848071-42853888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42851696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 153 (D153E)

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: D153E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: D153E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.9%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,352 (GRCm39)	V230E	probably damaging	Het
Adam22	A	T	5: 8,230,064 (GRCm39)		probably benign	Het
AW554918	A	G	18: 25,473,344 (GRCm39)	I180V	possibly damaging	Het
C9	T	C	15: 6,512,780 (GRCm39)	S301P	possibly damaging	Het
Cdc42bpb	T	C	12: 111,268,558 (GRCm39)	Q1214R	probably benign	Het
Chaf1b	T	C	16: 93,697,043 (GRCm39)	I351T	probably damaging	Het
Clip1	T	C	5: 123,741,723 (GRCm39)	E1177G	probably damaging	Het
Colgalt1	G	A	8: 72,070,312 (GRCm39)	C198Y	probably damaging	Het
Dennd4b	C	T	3: 90,182,795 (GRCm39)	R871C	probably damaging	Het
Efcab3	A	T	11: 104,611,457 (GRCm39)	D433V	probably benign	Het
Eif4ebp1	A	G	8: 27,763,362 (GRCm39)	I52V	probably damaging	Het
Fbxw5	T	C	2: 25,394,195 (GRCm39)	I86T	probably damaging	Het
Gm10650	A	G	3: 127,833,530 (GRCm39)		noncoding transcript	Het
Helz	G	A	11: 107,577,378 (GRCm39)	A1910T	unknown	Het
Hsf2	C	T	10: 57,373,642 (GRCm39)	T70I	probably damaging	Het
Ifih1	A	G	2: 62,437,447 (GRCm39)		probably benign	Het
Kdm2a	T	C	19: 4,372,546 (GRCm39)	D933G	probably damaging	Het
Macc1	T	C	12: 119,429,346 (GRCm39)	I832T	probably damaging	Het
Mapk15	T	C	15: 75,870,697 (GRCm39)	S512P	possibly damaging	Het
Mybpc2	A	T	7: 44,171,149 (GRCm39)	I134N	possibly damaging	Het
Myh4	A	G	11: 67,150,000 (GRCm39)	E1853G	probably damaging	Het
Ncoa3	T	C	2: 165,897,279 (GRCm39)	V690A	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or5b97	A	G	19: 12,878,991 (GRCm39)	V51A	probably benign	Het
Pacsin2	A	T	15: 83,269,313 (GRCm39)		probably benign	Het
Piezo2	A	T	18: 63,155,596 (GRCm39)	L2416Q	probably damaging	Het
Pip5k1c	T	A	10: 81,144,858 (GRCm39)	I233N	probably damaging	Het
Ptcd3	T	C	6: 71,865,631 (GRCm39)	D428G	probably damaging	Het
Ptprf	T	C	4: 118,126,501 (GRCm39)	D84G	possibly damaging	Het
Rasgrf2	T	C	13: 92,120,359 (GRCm39)	D798G	probably benign	Het
Setd7	A	G	3: 51,450,097 (GRCm39)	Y110H	probably damaging	Het
Sgta	T	C	10: 80,887,081 (GRCm39)	I61M	possibly damaging	Het
Shank1	A	G	7: 44,006,376 (GRCm39)	D2031G	possibly damaging	Het
Skint5	A	G	4: 113,799,864 (GRCm39)	Y88H	probably damaging	Het
Stox1	T	C	10: 62,499,945 (GRCm39)	I872V	probably benign	Het
Tmc4	A	G	7: 3,674,025 (GRCm39)	F385L	probably benign	Het
Top3a	A	G	11: 60,646,838 (GRCm39)	F258L	probably damaging	Het
Ttn	T	C	2: 76,780,499 (GRCm39)	Y1084C	probably damaging	Het
Ubtf	A	T	11: 102,199,528 (GRCm39)	Y504*	probably null	Het
Wdfy3	T	C	5: 102,036,125 (GRCm39)	T2098A	probably damaging	Het
Wnk2	G	T	13: 49,214,964 (GRCm39)	T1194K	possibly damaging	Het
Zbtb40	T	A	4: 136,725,879 (GRCm39)	E560V	probably benign	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
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
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'- TAAATTGCTGTGCACTGTGTC -3'
(R):5'- TGTGTTTAGATCCCAGCTGC -3'

Sequencing Primer
(F):5'- AACCAGTGTCTCAGAGGCCATG -3'
(R):5'- TGCCAAATCTGTGAGGCTAC -3'

Posted On

2014-11-11