Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Spata31d1a'

251010

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

MMRRC Submission

040409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59699806-59710330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59701993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 774 (S774P)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

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

AlphaFold

E9QA35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066510
AA Change: S774P

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

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S774P

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: S774P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Meta Mutation Damage Score

0.1075

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676	W290*	probably null	Het
Acsl5	A	T	19: 55,293,599	K536*	probably null	Het
Adamts14	A	T	10: 61,198,970		probably null	Het
Agbl3	A	G	6: 34,846,764	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Bcl11b	G	A	12: 107,915,447	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,638,763	M426L	probably damaging	Het
Cep95	A	G	11: 106,809,282	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776		probably benign	Het
Cnbd1	A	T	4: 18,860,579	M389K	probably damaging	Het
Cnksr1	A	T	4: 134,232,162	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097		probably null	Het
Dido1	A	G	2: 180,689,388	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820	C182S	unknown	Het
Gm5724	C	A	6: 141,765,777	M69I	probably benign	Het
Golga3	T	A	5: 110,207,596	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990		probably benign	Het
Mmp19	A	G	10: 128,790,950		probably benign	Het
Msc	T	G	1: 14,755,249	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078		probably benign	Het
Ralgapa2	G	T	2: 146,361,400	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312		probably benign	Het
Rfx6	A	C	10: 51,726,675		probably benign	Het
Rras	G	A	7: 45,018,064	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703	K316E	probably damaging	Het
Spsb4	T	C	9: 96,995,787	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Trnt1	T	A	6: 106,773,369	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,707,505	F337L	probably null	Het
Zfp287	A	T	11: 62,714,633	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724		probably null	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
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
R8837:Spata31d1a	UTSW	13	59702782	missense	possibly damaging	0.92
R9108:Spata31d1a	UTSW	13	59703168	missense	probably benign	0.00
Z1177:Spata31d1a	UTSW	13	59703085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAATGCCATCCTTCTGCGG -3'
(R):5'- AGAGATCCCATACAATGTAAGTCCTG -3'

Sequencing Primer
(F):5'- CTTCTGCGGAAGGCTGTGATG -3'
(R):5'- CCCATACAATGTAAGTCCTGTGGAG -3'

Posted On

2014-12-04