Mutagenetix > Incidental Mutations

Incidental Mutation 'R0691:Spata31d1a'

226048

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

MMRRC Submission

038876-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59699806-59710330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59700385 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1310 (S1310P)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066510
AA Change: S1310P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S1310P

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

possibly damaging
Transcript: ENSMUST00000224982
AA Change: S1310P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,639,253	D865G	possibly damaging	Het
Acy1	A	T	9: 106,435,871		probably null	Het
Adcy4	A	T	14: 55,772,647		probably benign	Het
Anpep	T	G	7: 79,839,299	D347A	probably damaging	Het
Arhgap28	C	T	17: 67,896,164		probably null	Het
Ccdc32	A	G	2: 119,027,129		probably benign	Het
Cdc42bpa	A	G	1: 180,144,835	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,412,623	Y958H	probably damaging	Het
Cenpe	A	G	3: 135,217,305	E137G	probably damaging	Het
Chd8	T	C	14: 52,213,433	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,168,947	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,395,696	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,565,211		probably null	Het
Cts7	A	G	13: 61,355,734	F139L	probably damaging	Het
Dera	T	C	6: 137,796,747		probably benign	Het
Dgka	A	G	10: 128,723,260		probably benign	Het
Dhrs7	T	A	12: 72,652,351	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,728,357		probably benign	Het
Fam160b2	T	C	14: 70,588,287	D351G	probably damaging	Het
Fermt1	A	G	2: 132,906,733	S657P	probably damaging	Het
Flnb	T	C	14: 7,890,810	V564A	probably benign	Het
Garnl3	A	G	2: 33,085,907	F16L	probably damaging	Het
Gck	T	C	11: 5,906,691	R191G	probably damaging	Het
Gucy1b1	A	T	3: 82,045,634		probably benign	Het
Ifna2	A	C	4: 88,683,658	L41R	probably damaging	Het
Krt33a	T	G	11: 100,012,715	E197A	probably damaging	Het
Lce1e	G	A	3: 92,707,756	R95C	unknown	Het
Lct	G	T	1: 128,308,234	S345R	probably benign	Het
Lrp2	A	T	2: 69,451,380	N3882K	probably benign	Het
Mcc	G	T	18: 44,445,860	T652K	possibly damaging	Het
Mier1	A	G	4: 103,139,502	S109G	probably benign	Het
Nfat5	A	G	8: 107,355,605	N469S	probably damaging	Het
Olfr382	C	A	11: 73,516,844	M118I	possibly damaging	Het
Olfr807	G	A	10: 129,755,402	T16I	probably damaging	Het
Piwil1	G	T	5: 128,743,307	R256M	probably null	Het
Rgma	T	C	7: 73,409,412	V88A	probably damaging	Het
Sdk2	T	C	11: 113,794,920		probably null	Het
Sec22b	A	G	3: 97,912,674	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,387,245	R131G	possibly damaging	Het
Spint1	A	G	2: 119,246,467	E344G	probably damaging	Het
Srrm1	G	A	4: 135,324,991	Q141*	probably null	Het
Tecta	A	T	9: 42,384,341	L286Q	probably damaging	Het
Tep1	T	A	14: 50,866,844	K198*	probably null	Het
Tk2	A	G	8: 104,231,192	V174A	probably benign	Het
Txndc5	T	C	13: 38,507,896	K165E	probably damaging	Het
Ubr4	G	A	4: 139,423,906	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 42,300,420	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,973,539	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,512,942	V223D	probably damaging	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
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
R4894:Spata31d1a	UTSW	13	59701728	missense	probably damaging	0.98
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
Z1177:Spata31d1a	UTSW	13	59703085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTTCCACACAAAGAAGGGCAG -3'
(R):5'- GCCTCAGGAAAATCAGTTCACCAGC -3'

Sequencing Primer
(F):5'- AGGGCAGCCGGAAACTC -3'
(R):5'- GCTCTCCATTAGCATCTGGGAAG -3'

Posted On

2014-09-10