Mutagenetix > Incidental Mutation

Incidental Mutation 'R9786:Spata31d1e'

734355

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1e

Ensembl Gene

ENSMUSG00000051054

Gene Name

spermatogenesis associated 31 subfamily D, member 1E

Synonyms

1700014D04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9786 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59888656-59894566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59890498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 441 (D441N)

Ref Sequence

ENSEMBL: ENSMUSP00000136424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]

AlphaFold

J3QMS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055343
AA Change: D23N

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: D23N

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178508

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	99	7.4e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180139
AA Change: D441N

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: D441N

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	439	6.9e-97	PFAM
low complexity region	622	633	N/A	INTRINSIC
low complexity region	671	693	N/A	INTRINSIC
low complexity region	737	763	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,536 (GRCm39)	M232K	possibly damaging	Het
Abcc1	T	C	16: 14,222,927 (GRCm39)	S243P	probably damaging	Het
Acsl1	T	C	8: 46,974,486 (GRCm39)	Y320H	probably damaging	Het
Adam11	A	G	11: 102,653,090 (GRCm39)	S61G	probably benign	Het
Adamts1	G	A	16: 85,592,302 (GRCm39)	T965I	probably benign	Het
Adcyap1r1	T	A	6: 55,456,182 (GRCm39)	M190K	probably damaging	Het
Ankrd2	T	A	19: 42,033,358 (GRCm39)	L300Q		Het
Ankrd27	A	T	7: 35,291,294 (GRCm39)	Q30L	possibly damaging	Het
Atp8b5	T	A	4: 43,305,798 (GRCm39)	I114K	probably damaging	Het
Atrn	A	T	2: 130,786,809 (GRCm39)	I205F	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,311,692 (GRCm39)	R677H		Het
Calhm6	A	G	10: 34,003,643 (GRCm39)	F88S	probably benign	Het
Ccdc121rt3	T	A	5: 112,502,939 (GRCm39)	E255V	probably benign	Het
Dpysl3	G	T	18: 43,462,922 (GRCm39)	T485K	probably damaging	Het
Esyt3	T	C	9: 99,194,038 (GRCm39)	D867G	possibly damaging	Het
Fam178b	G	A	1: 36,603,517 (GRCm39)	T478I	probably damaging	Het
Foxd2	G	T	4: 114,764,850 (GRCm39)	T390K	possibly damaging	Het
Furin	A	G	7: 80,040,645 (GRCm39)	V731A	probably benign	Het
Grin2a	T	A	16: 9,471,466 (GRCm39)	I601F	possibly damaging	Het
Hat1	G	A	2: 71,250,959 (GRCm39)	R169Q	possibly damaging	Het
Ighe	G	C	12: 113,236,851 (GRCm39)	Q6E		Het
Ighv8-2	T	C	12: 114,426,179 (GRCm39)	I31V	probably benign	Het
Klk1	A	G	7: 43,878,104 (GRCm39)	D120G	probably damaging	Het
Kmt2e	A	G	5: 23,702,982 (GRCm39)	D1054G	probably benign	Het
Lamp5	A	T	2: 135,910,998 (GRCm39)	I244F	probably damaging	Het
Maco1	A	T	4: 134,557,993 (GRCm39)	Y173*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mfsd4b1	T	C	10: 39,878,865 (GRCm39)	E344G	probably damaging	Het
Mns1	A	G	9: 72,346,556 (GRCm39)	K13R	probably benign	Het
Mrpl43	C	T	19: 44,994,346 (GRCm39)	S91N	probably benign	Het
Mtbp	T	C	15: 55,481,032 (GRCm39)	S706P	probably benign	Het
Nelfb	A	T	2: 25,095,145 (GRCm39)	V348D	probably damaging	Het
Or1l8	T	A	2: 36,817,416 (GRCm39)	K237*	probably null	Het
Or5p72	A	T	7: 108,021,924 (GRCm39)	I49F	probably benign	Het
Or7g20	C	T	9: 18,947,241 (GRCm39)	A274V	possibly damaging	Het
Or8k18	G	A	2: 86,085,428 (GRCm39)	S203L	probably benign	Het
Or8s8	T	C	15: 98,354,713 (GRCm39)	I174T	possibly damaging	Het
Pde6c	T	C	19: 38,140,009 (GRCm39)	I324T	possibly damaging	Het
Phlpp2	T	A	8: 110,660,655 (GRCm39)	L770*	probably null	Het
Pik3c2b	T	A	1: 133,019,338 (GRCm39)	F1029I	possibly damaging	Het
Rfx2	A	T	17: 57,087,890 (GRCm39)	S500R	probably benign	Het
Sarm1	T	C	11: 78,365,743 (GRCm39)	M761V	probably benign	Het
Serpina1a	A	G	12: 103,822,140 (GRCm39)	L264P	possibly damaging	Het
Slc37a1	G	T	17: 31,556,965 (GRCm39)	G377V	probably damaging	Het
Slc38a4	T	A	15: 96,906,378 (GRCm39)	M364L	probably damaging	Het
Slc7a15	A	G	12: 8,580,280 (GRCm39)	F384S	probably benign	Het
Smyd4	T	C	11: 75,281,625 (GRCm39)	V366A	probably benign	Het
Spata31d1b	T	A	13: 59,866,155 (GRCm39)	V1101D	possibly damaging	Het
Stab2	C	A	10: 86,757,997 (GRCm39)	M1090I	probably benign	Het
Tex15	C	T	8: 34,062,457 (GRCm39)	T903I	probably damaging	Het
Tgds	A	T	14: 118,368,049 (GRCm39)	Y41*	probably null	Het
Tle4	G	T	19: 14,495,304 (GRCm39)	H142N	probably benign	Het
Tlx2	T	C	6: 83,046,274 (GRCm39)		probably null	Het
Tmem151a	C	G	19: 5,131,869 (GRCm39)	A446P	probably damaging	Het
Tmem205	A	T	9: 21,832,496 (GRCm39)	D138E	probably damaging	Het
Tmprss9	A	G	10: 80,734,042 (GRCm39)	K1009E	unknown	Het
Tnk2	T	A	16: 32,498,875 (GRCm39)	C729*	probably null	Het
Trim46	T	A	3: 89,142,399 (GRCm39)	D696V	probably damaging	Het
Tuba3b	G	A	6: 145,564,482 (GRCm39)	R84Q	probably benign	Het
Unc119b	C	T	5: 115,263,521 (GRCm39)	D228N	probably damaging	Het
Usp17la	A	G	7: 104,510,864 (GRCm39)	T490A	probably benign	Het
Zfp267	T	A	3: 36,219,853 (GRCm39)	C625*	probably null	Het
Zfp687	C	T	3: 94,919,768 (GRCm39)	M1I	probably null	Het
Zfp729a	T	C	13: 67,768,628 (GRCm39)	T534A	possibly damaging	Het
Zfp985	A	T	4: 147,668,047 (GRCm39)	H305L	probably benign	Het
Zscan10	C	T	17: 23,828,330 (GRCm39)	Q291*	probably null	Het

Other mutations in Spata31d1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:Spata31d1e	UTSW	13	59,891,565 (GRCm39)	missense	probably damaging	1.00
BB020:Spata31d1e	UTSW	13	59,891,565 (GRCm39)	missense	probably damaging	1.00
R0838:Spata31d1e	UTSW	13	59,890,282 (GRCm39)	missense	possibly damaging	0.75
R1483:Spata31d1e	UTSW	13	59,890,717 (GRCm39)	missense	probably damaging	0.99
R1794:Spata31d1e	UTSW	13	59,890,434 (GRCm39)	missense	probably benign	0.22
R1842:Spata31d1e	UTSW	13	59,890,320 (GRCm39)	missense	probably damaging	1.00
R1969:Spata31d1e	UTSW	13	59,890,599 (GRCm39)	missense	probably damaging	0.98
R2027:Spata31d1e	UTSW	13	59,890,401 (GRCm39)	missense	possibly damaging	0.48
R2206:Spata31d1e	UTSW	13	59,890,920 (GRCm39)	missense	probably benign	0.40
R2207:Spata31d1e	UTSW	13	59,890,920 (GRCm39)	missense	probably benign	0.40
R2882:Spata31d1e	UTSW	13	59,890,757 (GRCm39)	missense	probably benign	0.00
R3508:Spata31d1e	UTSW	13	59,890,319 (GRCm39)	nonsense	probably null
R4447:Spata31d1e	UTSW	13	59,890,012 (GRCm39)	missense	probably benign	0.03
R4560:Spata31d1e	UTSW	13	59,889,571 (GRCm39)	missense	probably damaging	1.00
R4846:Spata31d1e	UTSW	13	59,890,047 (GRCm39)	missense	probably benign	0.00
R5186:Spata31d1e	UTSW	13	59,891,553 (GRCm39)	missense	probably damaging	1.00
R5510:Spata31d1e	UTSW	13	59,890,234 (GRCm39)	splice site	probably null
R5580:Spata31d1e	UTSW	13	59,890,070 (GRCm39)	missense	probably benign	0.00
R5752:Spata31d1e	UTSW	13	59,891,016 (GRCm39)	missense	probably damaging	0.96
R6266:Spata31d1e	UTSW	13	59,890,126 (GRCm39)	missense	probably benign	0.33
R6267:Spata31d1e	UTSW	13	59,890,497 (GRCm39)	missense	probably benign	0.13
R6296:Spata31d1e	UTSW	13	59,890,497 (GRCm39)	missense	probably benign	0.13
R6939:Spata31d1e	UTSW	13	59,889,872 (GRCm39)	missense	possibly damaging	0.75
R6973:Spata31d1e	UTSW	13	59,890,521 (GRCm39)	missense	probably benign	0.14
R7107:Spata31d1e	UTSW	13	59,889,997 (GRCm39)	nonsense	probably null
R7123:Spata31d1e	UTSW	13	59,891,254 (GRCm39)	nonsense	probably null
R7254:Spata31d1e	UTSW	13	59,889,790 (GRCm39)	missense	probably benign	0.01
R7354:Spata31d1e	UTSW	13	59,889,648 (GRCm39)	nonsense	probably null
R7536:Spata31d1e	UTSW	13	59,889,556 (GRCm39)	missense	probably damaging	0.99
R7729:Spata31d1e	UTSW	13	59,889,437 (GRCm39)	missense	not run
R7912:Spata31d1e	UTSW	13	59,890,329 (GRCm39)	missense	probably damaging	1.00
R7933:Spata31d1e	UTSW	13	59,891,565 (GRCm39)	missense	probably damaging	1.00
R8029:Spata31d1e	UTSW	13	59,890,191 (GRCm39)	missense	possibly damaging	0.79
R8347:Spata31d1e	UTSW	13	59,890,050 (GRCm39)	missense	possibly damaging	0.63
R8370:Spata31d1e	UTSW	13	59,891,766 (GRCm39)	missense	probably benign
R8395:Spata31d1e	UTSW	13	59,889,540 (GRCm39)	missense	probably benign	0.00
R8508:Spata31d1e	UTSW	13	59,891,412 (GRCm39)	missense	probably benign	0.02
R8930:Spata31d1e	UTSW	13	59,890,015 (GRCm39)	missense	possibly damaging	0.76
R8932:Spata31d1e	UTSW	13	59,890,015 (GRCm39)	missense	possibly damaging	0.76
R9127:Spata31d1e	UTSW	13	59,890,828 (GRCm39)	missense	probably benign	0.00
R9262:Spata31d1e	UTSW	13	59,890,402 (GRCm39)	missense	probably benign	0.00
R9401:Spata31d1e	UTSW	13	59,890,012 (GRCm39)	missense	probably benign	0.03
R9514:Spata31d1e	UTSW	13	59,890,806 (GRCm39)	missense	probably damaging	0.96
X0024:Spata31d1e	UTSW	13	59,890,539 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGAAGGTCGGAGCTTC -3'
(R):5'- AGTCAGTGTGTCACTCAAGG -3'

Sequencing Primer
(F):5'- CCAACCCAGGAATACTGTTTAATG -3'
(R):5'- TCAGTGTGTCACTCAAGGACTAGC -3'

Posted On

2022-11-14