Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Spata31d1d'

546403

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1d

Ensembl Gene

ENSMUSG00000043986

Gene Name

spermatogenesis associated 31 subfamily D, member 1D

Synonyms

4932411G14Rik, Fam75d1d

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59873739-59879566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59876046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 496 (R496S)

Ref Sequence

ENSEMBL: ENSMUSP00000128200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052978]

AlphaFold

E9Q5W2

Predicted Effect

probably benign
Transcript: ENSMUST00000052978
AA Change: R496S

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

SMART Domains

Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: R496S

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:DUF4599	70	155	5.4e-28	PFAM
low complexity region	228	238	N/A	INTRINSIC
low complexity region	284	298	N/A	INTRINSIC
Pfam:FAM75	383	733	2.6e-93	PFAM
low complexity region	1017	1030	N/A	INTRINSIC
low complexity region	1111	1129	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	probably damaging	Het

Other mutations in Spata31d1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Spata31d1d	APN	13	59,878,029 (GRCm39)	splice site	probably benign
IGL02399:Spata31d1d	APN	13	59,877,954 (GRCm39)	splice site	probably benign
IGL02531:Spata31d1d	APN	13	59,875,748 (GRCm39)	missense	possibly damaging	0.86
IGL02687:Spata31d1d	APN	13	59,875,678 (GRCm39)	missense	possibly damaging	0.71
IGL02815:Spata31d1d	APN	13	59,874,678 (GRCm39)	missense	possibly damaging	0.72
IGL02893:Spata31d1d	APN	13	59,873,793 (GRCm39)	missense	possibly damaging	0.72
IGL03037:Spata31d1d	APN	13	59,873,947 (GRCm39)	missense	possibly damaging	0.86
IGL02796:Spata31d1d	UTSW	13	59,876,057 (GRCm39)	missense	possibly damaging	0.93
R0612:Spata31d1d	UTSW	13	59,875,787 (GRCm39)	missense	probably benign	0.06
R1345:Spata31d1d	UTSW	13	59,873,838 (GRCm39)	missense	possibly damaging	0.72
R1572:Spata31d1d	UTSW	13	59,876,005 (GRCm39)	missense	probably benign	0.01
R1736:Spata31d1d	UTSW	13	59,874,311 (GRCm39)	missense	probably benign	0.02
R1750:Spata31d1d	UTSW	13	59,876,509 (GRCm39)	missense	probably benign	0.33
R1894:Spata31d1d	UTSW	13	59,875,936 (GRCm39)	missense	probably benign	0.09
R2202:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2203:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2204:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2913:Spata31d1d	UTSW	13	59,874,769 (GRCm39)	missense	possibly damaging	0.72
R3942:Spata31d1d	UTSW	13	59,875,276 (GRCm39)	missense	probably benign	0.18
R4513:Spata31d1d	UTSW	13	59,876,368 (GRCm39)	missense	probably benign	0.32
R4824:Spata31d1d	UTSW	13	59,877,055 (GRCm39)	missense	possibly damaging	0.86
R4959:Spata31d1d	UTSW	13	59,875,102 (GRCm39)	missense	probably damaging	1.00
R4970:Spata31d1d	UTSW	13	59,875,334 (GRCm39)	missense	probably benign	0.33
R5406:Spata31d1d	UTSW	13	59,876,592 (GRCm39)	missense	probably benign	0.33
R5618:Spata31d1d	UTSW	13	59,874,214 (GRCm39)	missense	probably benign	0.01
R5688:Spata31d1d	UTSW	13	59,874,322 (GRCm39)	missense	probably damaging	0.98
R5741:Spata31d1d	UTSW	13	59,876,500 (GRCm39)	missense	possibly damaging	0.86
R5867:Spata31d1d	UTSW	13	59,875,054 (GRCm39)	missense	possibly damaging	0.53
R5930:Spata31d1d	UTSW	13	59,874,829 (GRCm39)	missense	probably benign
R6263:Spata31d1d	UTSW	13	59,873,797 (GRCm39)	missense	probably benign	0.18
R6267:Spata31d1d	UTSW	13	59,876,278 (GRCm39)	missense	possibly damaging	0.93
R6296:Spata31d1d	UTSW	13	59,876,278 (GRCm39)	missense	possibly damaging	0.93
R6597:Spata31d1d	UTSW	13	59,873,871 (GRCm39)	missense	probably benign	0.01
R6985:Spata31d1d	UTSW	13	59,879,429 (GRCm39)	missense	probably benign	0.00
R7174:Spata31d1d	UTSW	13	59,876,394 (GRCm39)	missense	possibly damaging	0.72
R7322:Spata31d1d	UTSW	13	59,874,790 (GRCm39)	missense	probably benign
R7444:Spata31d1d	UTSW	13	59,875,007 (GRCm39)	missense	probably benign	0.33
R7946:Spata31d1d	UTSW	13	59,878,606 (GRCm39)	missense	probably benign	0.02
R8206:Spata31d1d	UTSW	13	59,879,344 (GRCm39)	missense	probably benign	0.03
R8912:Spata31d1d	UTSW	13	59,875,136 (GRCm39)	missense	possibly damaging	0.53
R8995:Spata31d1d	UTSW	13	59,874,421 (GRCm39)	missense	probably benign	0.33
R9215:Spata31d1d	UTSW	13	59,875,823 (GRCm39)	missense	probably benign	0.32
R9800:Spata31d1d	UTSW	13	59,874,637 (GRCm39)	missense	possibly damaging	0.53
Z1176:Spata31d1d	UTSW	13	59,873,981 (GRCm39)	missense	probably benign	0.18

Predicted Primers

Posted On

2019-05-13