Mutagenetix > Incidental Mutation

Incidental Mutation 'R6806:Spata31d1a'

537497

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

1700013B16Rik, Fam75d3, Fam75d1a

MMRRC Submission

044919-MU

Accession Numbers

Essential gene?

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

Stock #

R6806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59847897-59854401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59851032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 365 (N365K)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

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

AlphaFold

E9QA35

Predicted Effect

probably benign
Transcript: ENSMUST00000066510
AA Change: N365K

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

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: N365K

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 benign
Transcript: ENSMUST00000224982
AA Change: N365K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,075,669 (GRCm39)	Y437C	probably damaging	Het
Apba2	T	A	7: 64,345,207 (GRCm39)	D132E	probably damaging	Het
Atp13a4	A	G	16: 29,288,098 (GRCm39)	S258P	probably damaging	Het
Bach2	T	A	4: 32,575,301 (GRCm39)	M509K	possibly damaging	Het
Ccdc186	T	A	19: 56,788,561 (GRCm39)	K549N	probably damaging	Het
Chrna3	C	T	9: 54,923,094 (GRCm39)	R238H	probably damaging	Het
Cntnap5b	G	A	1: 99,868,374 (GRCm39)	C30Y	probably damaging	Het
Cplane1	A	G	15: 8,216,342 (GRCm39)	Q520R	possibly damaging	Het
Dnah11	T	C	12: 117,951,411 (GRCm39)		probably null	Het
Ebna1bp2	T	C	4: 118,478,174 (GRCm39)	C16R	probably benign	Het
Grin2b	A	G	6: 135,751,826 (GRCm39)	Y579H	possibly damaging	Het
Ifi206	C	T	1: 173,309,137 (GRCm39)	M286I	probably benign	Het
Itpr1	G	A	6: 108,492,908 (GRCm39)	V2478I	probably benign	Het
Lrrc37	T	C	11: 103,511,950 (GRCm39)	E6G	unknown	Het
Ltbp2	T	C	12: 84,856,012 (GRCm39)	S744G	possibly damaging	Het
Magi3	T	A	3: 103,954,285 (GRCm39)	N684I	possibly damaging	Het
Muc16	A	G	9: 18,449,206 (GRCm39)		probably null	Het
Nphp4	G	T	4: 152,622,558 (GRCm39)	Q614H	probably benign	Het
Nprl3	A	G	11: 32,217,509 (GRCm39)	I11T	probably damaging	Het
Or51q1	G	T	7: 103,628,771 (GRCm39)	R124L	possibly damaging	Het
Pank2	T	C	2: 131,104,627 (GRCm39)		probably benign	Het
Prss58	A	T	6: 40,874,666 (GRCm39)	N58K	probably damaging	Het
Ptk7	C	T	17: 46,884,454 (GRCm39)	V759M	probably damaging	Het
Rassf7	A	G	7: 140,796,722 (GRCm39)	T28A	probably damaging	Het
Rbm45	C	T	2: 76,210,804 (GRCm39)	T445I	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsrc2	T	G	5: 123,877,594 (GRCm39)		probably benign	Het
Saxo2	A	T	7: 82,284,240 (GRCm39)	I206N	probably benign	Het
Sh3d19	T	A	3: 86,011,640 (GRCm39)	Y409N	probably damaging	Het
Stkld1	C	G	2: 26,833,922 (GRCm39)	N136K	probably benign	Het
Tenm4	A	G	7: 96,461,166 (GRCm39)	D904G	possibly damaging	Het
Tmf1	G	A	6: 97,138,408 (GRCm39)	R837*	probably null	Het
Tnn	T	C	1: 159,948,278 (GRCm39)	T812A	possibly damaging	Het
Trgj4	T	C	13: 19,526,365 (GRCm39)	L15P	probably damaging	Het
Trp53bp1	T	C	2: 121,059,147 (GRCm39)	I905V	probably damaging	Het
Ubr3	T	C	2: 69,786,308 (GRCm39)		probably benign	Het
Zfp446	T	C	7: 12,713,043 (GRCm39)	L27P	probably damaging	Het
Zfp719	A	G	7: 43,235,809 (GRCm39)	D57G	possibly damaging	Het
Zfp747l1	T	C	7: 126,985,766 (GRCm39)		probably benign	Het
Zfp978	G	A	4: 147,475,284 (GRCm39)	R277K	probably benign	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Spata31d1a	APN	13	59,849,999 (GRCm39)	missense	probably benign	0.27
IGL01397:Spata31d1a	APN	13	59,849,552 (GRCm39)	missense	probably damaging	0.99
IGL01448:Spata31d1a	APN	13	59,849,373 (GRCm39)	missense	probably benign	0.06
IGL02715:Spata31d1a	APN	13	59,851,549 (GRCm39)	missense	probably benign	0.44
IGL02983:Spata31d1a	APN	13	59,851,508 (GRCm39)	missense	possibly damaging	0.65
IGL03224:Spata31d1a	APN	13	59,848,840 (GRCm39)	missense	possibly damaging	0.85
PIT1430001:Spata31d1a	UTSW	13	59,849,010 (GRCm39)	missense	probably benign
R0302:Spata31d1a	UTSW	13	59,850,964 (GRCm39)	missense	probably benign
R0387:Spata31d1a	UTSW	13	59,851,315 (GRCm39)	missense	probably damaging	0.99
R0464:Spata31d1a	UTSW	13	59,849,573 (GRCm39)	missense	possibly damaging	0.85
R0606:Spata31d1a	UTSW	13	59,850,245 (GRCm39)	missense	probably benign	0.03
R0617:Spata31d1a	UTSW	13	59,850,073 (GRCm39)	missense	possibly damaging	0.53
R0691:Spata31d1a	UTSW	13	59,848,199 (GRCm39)	missense	possibly damaging	0.93
R0746:Spata31d1a	UTSW	13	59,850,077 (GRCm39)	missense	possibly damaging	0.95
R1019:Spata31d1a	UTSW	13	59,850,182 (GRCm39)	missense	probably benign
R1397:Spata31d1a	UTSW	13	59,852,853 (GRCm39)	splice site	probably benign
R1543:Spata31d1a	UTSW	13	59,850,056 (GRCm39)	missense	probably benign
R1619:Spata31d1a	UTSW	13	59,850,247 (GRCm39)	nonsense	probably null
R1799:Spata31d1a	UTSW	13	59,851,216 (GRCm39)	missense	probably benign
R1820:Spata31d1a	UTSW	13	59,849,069 (GRCm39)	missense	possibly damaging	0.86
R1885:Spata31d1a	UTSW	13	59,849,821 (GRCm39)	missense	probably damaging	0.99
R1909:Spata31d1a	UTSW	13	59,850,509 (GRCm39)	missense	probably damaging	0.99
R2012:Spata31d1a	UTSW	13	59,850,370 (GRCm39)	missense	possibly damaging	0.93
R2099:Spata31d1a	UTSW	13	59,853,885 (GRCm39)	missense	probably damaging	0.97
R2132:Spata31d1a	UTSW	13	59,848,857 (GRCm39)	missense	probably damaging	0.96
R2224:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2225:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2226:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2358:Spata31d1a	UTSW	13	59,851,702 (GRCm39)	missense	probably benign	0.00
R2495:Spata31d1a	UTSW	13	59,849,807 (GRCm39)	missense	possibly damaging	0.93
R3081:Spata31d1a	UTSW	13	59,850,907 (GRCm39)	missense	probably benign	0.15
R3151:Spata31d1a	UTSW	13	59,849,180 (GRCm39)	missense	probably benign	0.06
R3971:Spata31d1a	UTSW	13	59,849,971 (GRCm39)	missense	possibly damaging	0.85
R4156:Spata31d1a	UTSW	13	59,852,861 (GRCm39)	missense	possibly damaging	0.92
R4760:Spata31d1a	UTSW	13	59,849,459 (GRCm39)	missense	probably damaging	1.00
R4767:Spata31d1a	UTSW	13	59,848,969 (GRCm39)	missense	probably benign	0.03
R4877:Spata31d1a	UTSW	13	59,850,337 (GRCm39)	missense	probably damaging	0.99
R4894:Spata31d1a	UTSW	13	59,849,542 (GRCm39)	missense	probably damaging	0.98
R4961:Spata31d1a	UTSW	13	59,849,716 (GRCm39)	missense	possibly damaging	0.86
R4990:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R4991:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R4992:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R5088:Spata31d1a	UTSW	13	59,848,966 (GRCm39)	splice site	probably null
R5094:Spata31d1a	UTSW	13	59,852,858 (GRCm39)	critical splice donor site	probably null
R5330:Spata31d1a	UTSW	13	59,848,217 (GRCm39)	missense	possibly damaging	0.86
R5587:Spata31d1a	UTSW	13	59,850,432 (GRCm39)	missense	probably damaging	0.96
R5832:Spata31d1a	UTSW	13	59,849,380 (GRCm39)	missense	probably damaging	0.98
R6073:Spata31d1a	UTSW	13	59,850,808 (GRCm39)	missense	probably damaging	0.98
R6208:Spata31d1a	UTSW	13	59,848,378 (GRCm39)	missense	probably damaging	0.98
R6224:Spata31d1a	UTSW	13	59,854,134 (GRCm39)	start gained	probably benign
R6250:Spata31d1a	UTSW	13	59,849,615 (GRCm39)	missense	possibly damaging	0.93
R6359:Spata31d1a	UTSW	13	59,850,920 (GRCm39)	missense	probably benign
R6848:Spata31d1a	UTSW	13	59,849,777 (GRCm39)	missense	possibly damaging	0.91
R6851:Spata31d1a	UTSW	13	59,851,725 (GRCm39)	missense	unknown
R6985:Spata31d1a	UTSW	13	59,850,907 (GRCm39)	missense	probably benign	0.15
R7007:Spata31d1a	UTSW	13	59,851,448 (GRCm39)	missense	probably benign
R7037:Spata31d1a	UTSW	13	59,848,138 (GRCm39)	missense	possibly damaging	0.96
R7124:Spata31d1a	UTSW	13	59,850,301 (GRCm39)	missense	probably damaging	0.99
R7271:Spata31d1a	UTSW	13	59,849,913 (GRCm39)	missense	probably benign	0.00
R7346:Spata31d1a	UTSW	13	59,851,015 (GRCm39)	missense	probably benign
R7556:Spata31d1a	UTSW	13	59,849,798 (GRCm39)	missense	probably benign	0.00
R7581:Spata31d1a	UTSW	13	59,851,953 (GRCm39)	critical splice donor site	probably null
R7891:Spata31d1a	UTSW	13	59,848,139 (GRCm39)	missense	possibly damaging	0.96
R7995:Spata31d1a	UTSW	13	59,848,924 (GRCm39)	missense	probably benign	0.06
R8379:Spata31d1a	UTSW	13	59,850,668 (GRCm39)	missense	probably benign	0.00
R8497:Spata31d1a	UTSW	13	59,848,988 (GRCm39)	missense	possibly damaging	0.91
R8837:Spata31d1a	UTSW	13	59,850,596 (GRCm39)	missense	possibly damaging	0.92
R9108:Spata31d1a	UTSW	13	59,850,982 (GRCm39)	missense	probably benign	0.00
Z1177:Spata31d1a	UTSW	13	59,850,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCAGCCTCATGTTTCAG -3'
(R):5'- ACTCCTATGCTTCTCAGGGC -3'

Sequencing Primer
(F):5'- AGCCTCATGTTTCAGGGACTCAC -3'
(R):5'- TTCTCAGGGCTCATACCAGG -3'

Posted On

2018-10-18