Mutagenetix > Incidental Mutation

Incidental Mutation 'R6622:Spata31f1e'

524501

Institutional Source

Beutler Lab

Gene Symbol

Spata31f1e

Ensembl Gene

ENSMUSG00000078722

Gene Name

spermatogenesis associated 31 subfamily F member 1E

Synonyms

Gm12394

Accession Numbers

Essential gene?

Not available question?

Stock #

R6622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42781928-42856771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42793111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 340 (L340F)

Ref Sequence

ENSEMBL: ENSMUSP00000103615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107981] [ENSMUST00000107984]

AlphaFold

A2AKP6

Predicted Effect

probably benign
Transcript: ENSMUST00000068158

SMART Domains

Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107981
AA Change: L340F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
AA Change: L340F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107984

SMART Domains

Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	C	5: 81,942,606 (GRCm39)	D1412A	probably benign	Het
Arhgap26	A	G	18: 39,032,916 (GRCm39)		probably benign	Het
Card14	A	G	11: 119,224,814 (GRCm39)	M614V	probably benign	Het
Cbx2	A	G	11: 118,919,961 (GRCm39)	T509A	probably damaging	Het
Cep135	A	G	5: 76,788,815 (GRCm39)	D1136G	probably benign	Het
Cep170	T	A	1: 176,583,898 (GRCm39)	Q827L	probably damaging	Het
Clock	A	T	5: 76,389,801 (GRCm39)	I349K	probably damaging	Het
Cnppd1	A	T	1: 75,113,539 (GRCm39)	V243E	probably damaging	Het
Cops3	A	G	11: 59,723,960 (GRCm39)	F93L	probably damaging	Het
Cplane1	C	A	15: 8,273,706 (GRCm39)	A2563D	probably damaging	Het
Cxxc5	T	G	18: 35,992,372 (GRCm39)	C258G	possibly damaging	Het
Cycs	G	A	6: 50,543,443 (GRCm39)		probably benign	Het
Cyp2c40	A	T	19: 39,790,990 (GRCm39)	H280Q	probably damaging	Het
Cyp4f14	C	T	17: 33,133,619 (GRCm39)	R79H	probably benign	Het
Dnajc27	A	G	12: 4,153,114 (GRCm39)	S197G	probably benign	Het
Dscam	C	T	16: 96,446,273 (GRCm39)	G1456E	probably benign	Het
Dst	G	A	1: 34,218,332 (GRCm39)	V1591I	probably benign	Het
Epha5	A	G	5: 84,385,387 (GRCm39)	S315P	possibly damaging	Het
Frmd4a	A	G	2: 4,610,873 (GRCm39)	T1012A	probably benign	Het
Fxr2	G	A	11: 69,532,416 (GRCm39)		probably null	Het
Hcn4	T	A	9: 58,765,010 (GRCm39)	V534E	unknown	Het
Hrh4	A	G	18: 13,155,454 (GRCm39)	Y331C	probably damaging	Het
Insyn1	A	G	9: 58,406,533 (GRCm39)	I148V	probably benign	Het
Kif16b	T	A	2: 142,554,362 (GRCm39)	H812L	probably benign	Het
Krt14	T	A	11: 100,094,786 (GRCm39)	R451S	probably benign	Het
Man2b1	A	G	8: 85,811,108 (GRCm39)	T80A	probably damaging	Het
Nedd4l	A	G	18: 65,307,305 (GRCm39)	T383A	probably damaging	Het
Pcdha9	T	A	18: 37,131,707 (GRCm39)	L259M	possibly damaging	Het
Pdgfd	T	C	9: 6,293,818 (GRCm39)	C131R	probably damaging	Het
Prrc2a	C	G	17: 35,374,396 (GRCm39)	R1418P	probably damaging	Het
Ptpra	G	T	2: 30,327,589 (GRCm39)	E114D	probably damaging	Het
Ptprt	A	T	2: 161,395,760 (GRCm39)	C1157S	probably damaging	Het
Rnf126	A	T	10: 79,597,397 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sel1l3	A	G	5: 53,297,202 (GRCm39)	V748A	probably damaging	Het
Serinc5	T	A	13: 92,825,194 (GRCm39)	S208T	probably benign	Het
Sftpb	A	G	6: 72,282,639 (GRCm39)	I74V	possibly damaging	Het
Slc22a14	A	C	9: 118,999,643 (GRCm39)	I516S	possibly damaging	Het
Slco2a1	G	A	9: 102,951,704 (GRCm39)	C411Y	possibly damaging	Het
Tent5a	G	T	9: 85,208,509 (GRCm39)	R105S	probably damaging	Het
Tet3	G	A	6: 83,380,426 (GRCm39)	P581S	probably benign	Het
Tmem231	T	C	8: 112,645,563 (GRCm39)	D112G	probably damaging	Het
Tnrc6b	T	A	15: 80,763,385 (GRCm39)	W296R	probably damaging	Het
Trpm1	T	A	7: 63,890,343 (GRCm39)	L982H	probably damaging	Het
Ttn	C	A	2: 76,550,862 (GRCm39)	R23183I	possibly damaging	Het
Tuft1	T	A	3: 94,542,726 (GRCm39)	Y46F	probably damaging	Het
Vmn1r167	T	A	7: 23,205,014 (GRCm39)	M1L	probably null	Het
Zfp808	A	G	13: 62,319,646 (GRCm39)	R292G	possibly damaging	Het
Zp2	T	C	7: 119,731,748 (GRCm39)	E669G	probably benign	Het
Zp2	C	T	7: 119,741,136 (GRCm39)	M129I	probably benign	Het

Other mutations in Spata31f1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Spata31f1e	APN	4	42,793,784 (GRCm39)	missense	possibly damaging	0.93
IGL01584:Spata31f1e	APN	4	42,794,014 (GRCm39)	missense	probably damaging	0.99
IGL02188:Spata31f1e	APN	4	42,791,994 (GRCm39)	splice site	probably null
IGL02615:Spata31f1e	APN	4	42,793,027 (GRCm39)	missense	probably benign	0.02
IGL03058:Spata31f1e	APN	4	42,793,764 (GRCm39)	missense	probably damaging	0.98
IGL03101:Spata31f1e	APN	4	42,793,424 (GRCm39)	missense	possibly damaging	0.63
LCD18:Spata31f1e	UTSW	4	42,792,885 (GRCm39)	missense	probably benign	0.06
R5959:Spata31f1e	UTSW	4	42,793,492 (GRCm39)	missense	probably damaging	1.00
R6123:Spata31f1e	UTSW	4	42,793,065 (GRCm39)	missense	possibly damaging	0.92
R6221:Spata31f1e	UTSW	4	42,793,153 (GRCm39)	missense	probably benign	0.00
R6450:Spata31f1e	UTSW	4	42,792,489 (GRCm39)	missense	probably damaging	1.00
R6518:Spata31f1e	UTSW	4	42,791,750 (GRCm39)	missense	probably benign	0.00
R6962:Spata31f1e	UTSW	4	42,793,323 (GRCm39)	missense	probably damaging	0.98
R7301:Spata31f1e	UTSW	4	42,792,923 (GRCm39)	missense	possibly damaging	0.64
R7334:Spata31f1e	UTSW	4	42,793,856 (GRCm39)	missense	possibly damaging	0.80
R7501:Spata31f1e	UTSW	4	42,791,357 (GRCm39)	missense	probably damaging	1.00
R7788:Spata31f1e	UTSW	4	42,793,546 (GRCm39)	missense	possibly damaging	0.92
R7807:Spata31f1e	UTSW	4	42,793,885 (GRCm39)	missense	probably benign	0.00
R8354:Spata31f1e	UTSW	4	42,793,223 (GRCm39)	missense	probably benign	0.00
R8795:Spata31f1e	UTSW	4	42,792,992 (GRCm39)	missense	probably benign	0.14
R9006:Spata31f1e	UTSW	4	42,792,546 (GRCm39)	missense	probably benign	0.01
R9007:Spata31f1e	UTSW	4	42,792,546 (GRCm39)	missense	probably benign	0.01
R9008:Spata31f1e	UTSW	4	42,792,546 (GRCm39)	missense	probably benign	0.01
R9168:Spata31f1e	UTSW	4	42,793,380 (GRCm39)	missense	probably benign	0.00
R9448:Spata31f1e	UTSW	4	42,793,440 (GRCm39)	missense	probably benign	0.25
R9450:Spata31f1e	UTSW	4	42,793,833 (GRCm39)	missense	probably benign	0.26
R9613:Spata31f1e	UTSW	4	42,792,992 (GRCm39)	missense	probably benign	0.14
Z1177:Spata31f1e	UTSW	4	42,793,520 (GRCm39)	missense	probably damaging	0.96
Z1177:Spata31f1e	UTSW	4	42,793,428 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTAATCTGTGCTCCTTCACG -3'
(R):5'- TTCTGGGTTTCCAAATGGCC -3'

Sequencing Primer
(F):5'- AGTCTTGCCATTCAGAGAAGTCG -3'
(R):5'- TGGCCTGTTATAAACCTGCAAC -3'

Posted On

2018-06-22