Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:Spata31f1e'

714178

Institutional Source

Beutler Lab

Gene Symbol

Spata31f1e

Ensembl Gene

ENSMUSG00000078722

Gene Name

spermatogenesis associated 31 subfamily F member 1E

Synonyms

Gm12394

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42781928-42856771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42793833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 100 (Q100K)

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 benign
Transcript: ENSMUST00000107981
AA Change: Q100K

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
AA Change: Q100K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
2810004N23Rik	T	C	8: 125,567,215 (GRCm39)	K229E	probably damaging	Het
Abca8b	T	C	11: 109,859,930 (GRCm39)	T523A	probably damaging	Het
Adamts18	G	T	8: 114,490,942 (GRCm39)	D508E	probably benign	Het
Arap2	T	C	5: 62,855,762 (GRCm39)	E558G	probably benign	Het
Arid4a	A	T	12: 71,119,374 (GRCm39)	D331V		Het
Ash1l	A	T	3: 88,915,139 (GRCm39)	K1923M	possibly damaging	Het
Atad2b	T	A	12: 5,063,859 (GRCm39)	S947T	probably benign	Het
B4galt1	A	T	4: 40,853,804 (GRCm39)	M1K	probably null	Het
Ccpg1	G	A	9: 72,904,703 (GRCm39)	S4N	unknown	Het
Cfap43	A	T	19: 47,886,310 (GRCm39)	L102M	probably benign	Het
Clic6	T	C	16: 92,327,644 (GRCm39)	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,661,373 (GRCm39)	D245E	probably benign	Het
Cpsf7	G	A	19: 10,518,213 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,091,354 (GRCm39)	D721G	probably benign	Het
Dhx29	C	T	13: 113,083,862 (GRCm39)	T639I	possibly damaging	Het
Dock7	T	C	4: 98,861,426 (GRCm39)	E1397G	unknown	Het
Dsp	C	T	13: 38,376,379 (GRCm39)	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,183,425 (GRCm39)	G73D	probably damaging	Het
Ganab	A	G	19: 8,893,076 (GRCm39)	D960G	probably damaging	Het
Gria1	T	C	11: 57,200,615 (GRCm39)	V764A	probably damaging	Het
Grk3	T	C	5: 113,062,913 (GRCm39)	K645E	probably benign	Het
Hecw2	A	T	1: 53,878,188 (GRCm39)	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,316,845 (GRCm39)	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,355,055 (GRCm39)	N129K	possibly damaging	Het
Iqca1l	T	A	5: 24,754,447 (GRCm39)	I395F	probably benign	Het
Itgb4	T	C	11: 115,874,097 (GRCm39)	Y340H	probably damaging	Het
Itgb6	T	C	2: 60,458,372 (GRCm39)	I460M	probably benign	Het
Kat14	T	C	2: 144,242,739 (GRCm39)	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,322,467 (GRCm39)	D817E	probably benign	Het
Lamb2	T	A	9: 108,357,760 (GRCm39)	C94*	probably null	Het
Larp1	T	C	11: 57,941,890 (GRCm39)	S743P	probably damaging	Het
Ldlrap1	T	C	4: 134,474,490 (GRCm39)	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltf	T	C	9: 110,851,064 (GRCm39)	L92P	probably damaging	Het
Ly6g2	T	A	15: 75,092,574 (GRCm39)	C98S	probably damaging	Het
Mns1	C	A	9: 72,359,890 (GRCm39)	Q347K	probably benign	Het
Myof	A	T	19: 37,949,374 (GRCm39)	F611I	probably damaging	Het
Nop56	T	C	2: 130,117,601 (GRCm39)	L76P	probably damaging	Het
Nphp1	T	C	2: 127,616,008 (GRCm39)	H114R		Het
Or10g3	G	C	14: 52,610,110 (GRCm39)	Y133*	probably null	Het
Or1e30	C	A	11: 73,678,101 (GRCm39)	N112K	possibly damaging	Het
Or4k36	T	A	2: 111,146,398 (GRCm39)	N191K	probably benign	Het
Pcdha12	A	G	18: 37,153,992 (GRCm39)	D237G	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm3	A	T	11: 71,952,412 (GRCm39)	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,845,681 (GRCm39)	V211I	probably damaging	Het
Prkn	C	A	17: 12,057,521 (GRCm39)	H301N	possibly damaging	Het
Prpf38a	A	T	4: 108,430,072 (GRCm39)	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,697,105 (GRCm39)	T1769A	probably benign	Het
Stab1	T	C	14: 30,884,896 (GRCm39)	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnrc6b	T	A	15: 80,764,637 (GRCm39)	M713K	probably benign	Het
Top2a	T	C	11: 98,894,434 (GRCm39)	K966E	possibly damaging	Het
Vars2	T	C	17: 35,973,027 (GRCm39)	T421A	probably damaging	Het
Vmn1r1	A	T	1: 181,984,770 (GRCm39)	C298*	probably null	Het
Vps35l	T	C	7: 118,352,118 (GRCm39)		probably null	Het
Vwa3a	T	C	7: 120,403,253 (GRCm39)		probably null	Het
Vwa5b1	G	T	4: 138,315,940 (GRCm39)	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,037,281 (GRCm39)	K454E	probably damaging	Het
Zfp426	T	C	9: 20,381,577 (GRCm39)	H470R	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
R6622:Spata31f1e	UTSW	4	42,793,111 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGACACAGAGGACTTCACG -3'
(R):5'- TGAGAAAAGTCAGCTCTCCCC -3'

Sequencing Primer
(F):5'- CACAGAGGACTTCACGTGATG -3'
(R):5'- GAGATGTTGCCCATGTCT -3'

Posted On

2022-06-15