Mutagenetix > Incidental Mutations

Incidental Mutation 'R4894:Spata31d1a'

377514

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59699806-59710330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59701728 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 862 (V862D)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066510
AA Change: V862D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: V862D

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	66	150	3.7e-25	PFAM
low complexity region	196	217	N/A	INTRINSIC
low complexity region	240	266	N/A	INTRINSIC
Pfam:FAM75	400	772	2.9e-108	PFAM
low complexity region	1144	1154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224469

Predicted Effect

probably damaging
Transcript: ENSMUST00000224982
AA Change: V862D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,299,084	Y176*	probably null	Het
Akap13	T	A	7: 75,725,320	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,635,332	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,758,116		probably null	Het
Cacna1e	G	T	1: 154,488,805	S341*	probably null	Het
Camk1d	G	A	2: 5,354,728	S161L	probably damaging	Het
Cdh23	G	T	10: 60,337,851	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629	I1276N	probably damaging	Het
Clca1	A	G	3: 145,013,901	V436A	probably damaging	Het
Ctcfl	G	A	2: 173,117,403	P177S	probably benign	Het
Dab2ip	A	G	2: 35,730,527		probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011	S495R	probably benign	Het
Espl1	A	G	15: 102,322,323		probably null	Het
Eya4	T	C	10: 23,109,854	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,588,549	T554R	probably benign	Het
Fbxo18	A	T	2: 11,762,960	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,618,902	C1023R	probably damaging	Het
Gm14139	T	A	2: 150,191,979	C104*	probably null	Het
Helz2	G	C	2: 181,236,147	P953A	probably benign	Het
Ifi204	G	T	1: 173,760,242	S117Y	probably damaging	Het
Igfn1	G	A	1: 135,954,782	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,498,067	T1101A	probably benign	Het
Ipo13	A	C	4: 117,903,441	I614S	probably damaging	Het
Ipo13	A	G	4: 117,904,490	I476T	possibly damaging	Het
Kdm2b	C	A	5: 122,940,967	E308*	probably null	Het
Klhl20	A	T	1: 161,109,532	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,053,188	F64L	probably benign	Het
Ldlrad3	C	T	2: 102,057,948	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,912,531	T161A	probably benign	Het
Lrriq1	A	T	10: 103,161,752	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,325,402	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,541,118	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877	S651A	probably damaging	Het
Olfr1214	T	C	2: 88,987,439	I254M	possibly damaging	Het
Olfr1337	A	T	4: 118,782,286	C100S	probably damaging	Het
Olfr1361	T	C	13: 21,659,182	N47S	probably damaging	Het
Rag2	T	C	2: 101,629,677	S111P	probably damaging	Het
Rai1	T	A	11: 60,186,746	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,143,103	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,192,804	S205L	probably damaging	Het
Rec8	T	C	14: 55,625,330	L582P	probably damaging	Het
Retn	G	A	8: 3,657,358	R106H	probably damaging	Het
Rnf112	A	G	11: 61,452,662	L116P	probably damaging	Het
Rnf213	T	C	11: 119,481,240	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,582,344	I399M	probably benign	Het
Sez6	G	T	11: 77,975,260	G738V	probably damaging	Het
Spata17	A	G	1: 187,140,446	V56A	probably benign	Het
Sptb	A	G	12: 76,624,994		probably null	Het
Srpk2	C	A	5: 23,545,529	G59W	probably damaging	Het
Ttc30a1	T	C	2: 75,979,744	*665W	probably null	Het
Tyro3	T	C	2: 119,802,298	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,610,360	S108P	probably damaging	Het
Usp2	C	T	9: 44,075,828	S141L	probably benign	Het
Vamp5	T	C	6: 72,370,198	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,926,325	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,547,408	S490N	probably benign	Het
Vps39	A	T	2: 120,352,959	I10N	probably damaging	Het
Vwf	C	T	6: 125,645,934	Q1755*	probably null	Het
Wdfy4	A	T	14: 33,155,760	H82Q	probably benign	Het
Wdr24	T	C	17: 25,826,127	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,210,561	T852A	probably benign	Het
Zfp1	T	A	8: 111,669,723	C92*	probably null	Het
Zfp426	A	T	9: 20,475,073		probably benign	Het
Zfp442	C	T	2: 150,411,210		probably null	Het
Zfp74	T	C	7: 29,936,045		probably benign	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Spata31d1a	APN	13	59702185	missense	probably benign	0.27
IGL01397:Spata31d1a	APN	13	59701738	missense	probably damaging	0.99
IGL01448:Spata31d1a	APN	13	59701559	missense	probably benign	0.06
IGL02715:Spata31d1a	APN	13	59703735	missense	probably benign	0.44
IGL02983:Spata31d1a	APN	13	59703694	missense	possibly damaging	0.65
IGL03224:Spata31d1a	APN	13	59701026	missense	possibly damaging	0.85
PIT1430001:Spata31d1a	UTSW	13	59701196	missense	probably benign
R0302:Spata31d1a	UTSW	13	59703150	missense	probably benign
R0387:Spata31d1a	UTSW	13	59703501	missense	probably damaging	0.99
R0464:Spata31d1a	UTSW	13	59701759	missense	possibly damaging	0.85
R0606:Spata31d1a	UTSW	13	59702431	missense	probably benign	0.03
R0617:Spata31d1a	UTSW	13	59702259	missense	possibly damaging	0.53
R0691:Spata31d1a	UTSW	13	59700385	missense	possibly damaging	0.93
R0746:Spata31d1a	UTSW	13	59702263	missense	possibly damaging	0.95
R1019:Spata31d1a	UTSW	13	59702368	missense	probably benign
R1397:Spata31d1a	UTSW	13	59705039	splice site	probably benign
R1543:Spata31d1a	UTSW	13	59702242	missense	probably benign
R1619:Spata31d1a	UTSW	13	59702433	nonsense	probably null
R1799:Spata31d1a	UTSW	13	59703402	missense	probably benign
R1820:Spata31d1a	UTSW	13	59701255	missense	possibly damaging	0.86
R1885:Spata31d1a	UTSW	13	59702007	missense	probably damaging	0.99
R1909:Spata31d1a	UTSW	13	59702695	missense	probably damaging	0.99
R2012:Spata31d1a	UTSW	13	59702556	missense	possibly damaging	0.93
R2099:Spata31d1a	UTSW	13	59706071	missense	probably damaging	0.97
R2132:Spata31d1a	UTSW	13	59701043	missense	probably damaging	0.96
R2224:Spata31d1a	UTSW	13	59703715	missense	probably benign
R2225:Spata31d1a	UTSW	13	59703715	missense	probably benign
R2226:Spata31d1a	UTSW	13	59703715	missense	probably benign
R2358:Spata31d1a	UTSW	13	59703888	missense	probably benign	0.00
R2495:Spata31d1a	UTSW	13	59701993	missense	possibly damaging	0.93
R3081:Spata31d1a	UTSW	13	59703093	missense	probably benign	0.15
R3151:Spata31d1a	UTSW	13	59701366	missense	probably benign	0.06
R3971:Spata31d1a	UTSW	13	59702157	missense	possibly damaging	0.85
R4156:Spata31d1a	UTSW	13	59705047	missense	possibly damaging	0.92
R4760:Spata31d1a	UTSW	13	59701645	missense	probably damaging	1.00
R4767:Spata31d1a	UTSW	13	59701155	missense	probably benign	0.03
R4877:Spata31d1a	UTSW	13	59702523	missense	probably damaging	0.99
R4961:Spata31d1a	UTSW	13	59701902	missense	possibly damaging	0.86
R4990:Spata31d1a	UTSW	13	59703151	missense	probably benign	0.00
R4991:Spata31d1a	UTSW	13	59703151	missense	probably benign	0.00
R4992:Spata31d1a	UTSW	13	59703151	missense	probably benign	0.00
R5088:Spata31d1a	UTSW	13	59701152	splice site	probably null
R5094:Spata31d1a	UTSW	13	59705044	critical splice donor site	probably null
R5330:Spata31d1a	UTSW	13	59700403	missense	possibly damaging	0.86
R5587:Spata31d1a	UTSW	13	59702618	missense	probably damaging	0.96
R5832:Spata31d1a	UTSW	13	59701566	missense	probably damaging	0.98
R6073:Spata31d1a	UTSW	13	59702994	missense	probably damaging	0.98
R6208:Spata31d1a	UTSW	13	59700564	missense	probably damaging	0.98
R6224:Spata31d1a	UTSW	13	59706320	start gained	probably benign
R6250:Spata31d1a	UTSW	13	59701801	missense	possibly damaging	0.93
R6359:Spata31d1a	UTSW	13	59703106	missense	probably benign
R6806:Spata31d1a	UTSW	13	59703218	missense	probably benign
R6848:Spata31d1a	UTSW	13	59701963	missense	possibly damaging	0.91
R6851:Spata31d1a	UTSW	13	59703911	missense	unknown
R6985:Spata31d1a	UTSW	13	59703093	missense	probably benign	0.15
R7007:Spata31d1a	UTSW	13	59703634	missense	probably benign
R7037:Spata31d1a	UTSW	13	59700324	missense	possibly damaging	0.96
R7124:Spata31d1a	UTSW	13	59702487	missense	probably damaging	0.99
R7271:Spata31d1a	UTSW	13	59702099	missense	probably benign	0.00
R7346:Spata31d1a	UTSW	13	59703201	missense	probably benign
R7556:Spata31d1a	UTSW	13	59701984	missense	probably benign	0.00
R7581:Spata31d1a	UTSW	13	59704139	critical splice donor site	probably null
R7891:Spata31d1a	UTSW	13	59700325	missense	possibly damaging	0.96
R7995:Spata31d1a	UTSW	13	59701110	missense	probably benign	0.06
R8379:Spata31d1a	UTSW	13	59702854	missense	probably benign	0.00
R8497:Spata31d1a	UTSW	13	59701174	missense	possibly damaging	0.91
R8837:Spata31d1a	UTSW	13	59702782	missense	possibly damaging	0.92
Z1177:Spata31d1a	UTSW	13	59703085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTTGGGGCTATGCTAAG -3'
(R):5'- CATGTGAGGAGGATGCACTG -3'

Sequencing Primer
(F):5'- GGGCTATGCTAAGGTCTCTATCTAC -3'
(R):5'- ATGCACTGACGAGGCAC -3'

Posted On

2016-03-17