Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Spata31d1c'

546147

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65033058-65038004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65036063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 473 (Q473L)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099427]

AlphaFold

E9QAF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099427
AA Change: Q473L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: Q473L

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:DUF4599	63	148	2.4e-31	PFAM
low complexity region	178	190	N/A	INTRINSIC
low complexity region	196	213	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
Pfam:FAM75	380	742	1.4e-120	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,265,675	I804T	probably benign	Het
Abcb1b	A	T	5: 8,805,441	E25V	probably damaging	Het
Adamts9	G	T	6: 92,909,793	Y355*	probably null	Het
Akp3	A	G	1: 87,126,778	M303V	probably benign	Het
Ankrd35	A	T	3: 96,683,334	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,531,374		probably null	Het
Asxl1	T	C	2: 153,400,107	L859P	probably benign	Het
Atat1	A	G	17: 35,910,005	F11L	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Ccdc7a	A	T	8: 128,881,594	H943Q	unknown	Het
Cep135	A	G	5: 76,616,848	T558A	probably benign	Het
Cfap99	A	G	5: 34,301,519	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,831,063		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Col17a1	G	A	19: 47,652,183	P992L	probably damaging	Het
Col7a1	C	T	9: 108,963,263	Q1294*	probably null	Het
Coq8b	T	A	7: 27,239,868	C148S	probably damaging	Het
Csmd2	A	G	4: 128,277,228	N338S		Het
Cspg5	T	A	9: 110,246,891	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,639,897	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,195,517	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,628,251	I469V	probably benign	Het
Fam135b	T	C	15: 71,471,563	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,064,737	G453*	probably null	Het
Gclc	C	A	9: 77,788,216	A440D	probably damaging	Het
Glyat	T	C	19: 12,650,359	I106T	probably benign	Het
Gm12185	T	C	11: 48,908,244	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,693,037	H117R		Het
Gm884	C	T	11: 103,614,537	A26T	probably benign	Het
Ildr2	A	G	1: 166,303,529	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,178		probably benign	Het
Kif19a	C	T	11: 114,781,208	T207M	probably damaging	Het
Kif3a	G	T	11: 53,586,906	G401*	probably null	Het
Lactbl1	T	A	4: 136,632,975	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,246,011	D1649V	probably benign	Het
Map2k1	A	G	9: 64,193,823	V191A	probably benign	Het
Mdm4	A	T	1: 133,003,809	C165S	probably benign	Het
Med27	G	A	2: 29,509,434	W92*	probably null	Het
Muc20	A	T	16: 32,794,246	S254T	probably benign	Het
Myh1	A	G	11: 67,220,421	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,328,572	R275P	possibly damaging	Het
Notch2	T	A	3: 98,102,387	N543K	probably damaging	Het
Nup214	T	A	2: 32,034,156	S1566T	probably benign	Het
Nxnl1	T	G	8: 71,562,793	E157A	possibly damaging	Het
Obscn	A	G	11: 59,079,133	L61P	probably damaging	Het
Ogg1	A	T	6: 113,329,276	I145F	probably damaging	Het
Olfr1359	A	G	13: 21,703,270	K90E	possibly damaging	Het
Olfr453	G	A	6: 42,744,403	R122H	probably benign	Het
Olfr572	T	C	7: 102,927,942	F105L	probably damaging	Het
Olfr976	T	C	9: 39,956,345	T197A	probably benign	Het
Pclo	A	G	5: 14,713,447	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,170,195	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,458,393	K632E	probably damaging	Het
Plg	A	T	17: 12,391,836	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,131,497	N306K	probably damaging	Het
Pspn	A	G	17: 56,999,978	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,758,059	E484G	probably damaging	Het
Rbmxl1	G	T	8: 78,506,657	T19K	probably damaging	Het
Rora	G	A	9: 69,196,083	V31I	possibly damaging	Het
Skint5	C	A	4: 113,940,839	W182C	probably damaging	Het
Tesk2	G	A	4: 116,802,687	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484	V277L	probably benign	Het
Trhde	A	G	10: 114,518,177	M537T	probably damaging	Het
Ttc30a2	A	T	2: 75,976,269	L633*	probably null	Het
Tubb6	G	A	18: 67,401,911	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,738,754	L196Q	probably damaging	Het
Ubn1	A	T	16: 5,055,324	N70I	probably damaging	Het
Ubtf	A	T	11: 102,314,980	S40T	probably benign	Het
Virma	C	T	4: 11,519,249	A782V	possibly damaging	Het
Xdh	G	T	17: 73,943,873	T28K	probably damaging	Het
Xpo4	A	G	14: 57,597,051	S691P	probably benign	Het
Zfat	A	C	15: 68,180,452	F491V	probably damaging	Het
Zfp623	T	G	15: 75,948,305	V370G	probably damaging	Het

Other mutations in Spata31d1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Spata31d1c	APN	13	65036089	missense	probably damaging	1.00
IGL02830:Spata31d1c	APN	13	65035366	missense	probably benign	0.25
IGL02947:Spata31d1c	APN	13	65034945	nonsense	probably null
IGL03133:Spata31d1c	APN	13	65034985	missense	probably benign	0.18
IGL03176:Spata31d1c	APN	13	65037011	missense	probably benign	0.01
IGL03183:Spata31d1c	APN	13	65035195	missense	possibly damaging	0.86
IGL03206:Spata31d1c	APN	13	65035593	missense	probably benign	0.41
PIT4382001:Spata31d1c	UTSW	13	65036171	missense	probably benign	0.01
R0054:Spata31d1c	UTSW	13	65033062	start gained	probably benign
R0959:Spata31d1c	UTSW	13	65036315	missense	probably damaging	1.00
R1232:Spata31d1c	UTSW	13	65036614	missense	probably benign
R1347:Spata31d1c	UTSW	13	65035388	missense	probably benign	0.00
R1381:Spata31d1c	UTSW	13	65036554	missense	probably benign	0.08
R1573:Spata31d1c	UTSW	13	65035069	missense	possibly damaging	0.92
R1582:Spata31d1c	UTSW	13	65033224	missense	probably benign
R1639:Spata31d1c	UTSW	13	65036039	missense	probably benign
R1716:Spata31d1c	UTSW	13	65033216	missense	possibly damaging	0.86
R1781:Spata31d1c	UTSW	13	65036171	missense	probably benign	0.01
R1907:Spata31d1c	UTSW	13	65035876	missense	probably benign	0.03
R2012:Spata31d1c	UTSW	13	65035227	missense	possibly damaging	0.91
R2152:Spata31d1c	UTSW	13	65033965	critical splice donor site	probably null
R2211:Spata31d1c	UTSW	13	65035939	missense	probably benign	0.04
R2571:Spata31d1c	UTSW	13	65036384	missense	probably damaging	1.00
R2908:Spata31d1c	UTSW	13	65033191	missense	possibly damaging	0.63
R3978:Spata31d1c	UTSW	13	65035160	missense	possibly damaging	0.61
R3979:Spata31d1c	UTSW	13	65035160	missense	possibly damaging	0.61
R3980:Spata31d1c	UTSW	13	65035160	missense	possibly damaging	0.61
R3981:Spata31d1c	UTSW	13	65035111	missense	possibly damaging	0.68
R4014:Spata31d1c	UTSW	13	65035399	missense	probably damaging	0.99
R4255:Spata31d1c	UTSW	13	65035688	nonsense	probably null
R4255:Spata31d1c	UTSW	13	65035717	missense	probably benign	0.04
R4592:Spata31d1c	UTSW	13	65036060	missense	probably damaging	0.99
R4597:Spata31d1c	UTSW	13	65035613	nonsense	probably null
R4624:Spata31d1c	UTSW	13	65036597	missense	probably benign
R4641:Spata31d1c	UTSW	13	65035048	missense	probably benign	0.01
R4863:Spata31d1c	UTSW	13	65035790	nonsense	probably null
R5084:Spata31d1c	UTSW	13	65035130	missense	probably damaging	0.98
R5152:Spata31d1c	UTSW	13	65035595	missense	probably damaging	1.00
R5230:Spata31d1c	UTSW	13	65035434	missense	probably benign	0.41
R5267:Spata31d1c	UTSW	13	65035904	missense	probably damaging	0.98
R5615:Spata31d1c	UTSW	13	65035264	missense	possibly damaging	0.61
R5755:Spata31d1c	UTSW	13	65036527	missense	probably benign	0.12
R5935:Spata31d1c	UTSW	13	65037080	missense	possibly damaging	0.68
R6017:Spata31d1c	UTSW	13	65035079	missense	possibly damaging	0.91
R6131:Spata31d1c	UTSW	13	65035671	missense	probably benign	0.10
R6359:Spata31d1c	UTSW	13	65035592	missense	possibly damaging	0.63
R6723:Spata31d1c	UTSW	13	65035944	missense	probably benign	0.01
R7336:Spata31d1c	UTSW	13	65036128	missense	probably damaging	0.99
R7426:Spata31d1c	UTSW	13	65035361	missense	probably benign
R7552:Spata31d1c	UTSW	13	65036123	missense	probably damaging	0.98
R7605:Spata31d1c	UTSW	13	65035840	missense	probably benign	0.00
R7666:Spata31d1c	UTSW	13	65036000	missense	probably benign	0.01
R8403:Spata31d1c	UTSW	13	65036230	missense	probably benign	0.42
R8445:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8513:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8515:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8523:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8799:Spata31d1c	UTSW	13	65036326	missense	possibly damaging	0.92
R8817:Spata31d1c	UTSW	13	65034562	missense	probably damaging	0.98
R8854:Spata31d1c	UTSW	13	65035990	missense	possibly damaging	0.82
R8917:Spata31d1c	UTSW	13	65035615	missense	probably benign	0.02
R9084:Spata31d1c	UTSW	13	65035145	missense	probably benign
R9197:Spata31d1c	UTSW	13	65035876	missense	probably benign	0.01
R9201:Spata31d1c	UTSW	13	65036959	missense	possibly damaging	0.48
R9261:Spata31d1c	UTSW	13	65036866	missense	probably damaging	0.99
R9516:Spata31d1c	UTSW	13	65036226	missense	probably damaging	1.00
X0022:Spata31d1c	UTSW	13	65036927	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GTGTTGACTGACAGTTCCCTG -3'
(R):5'- CTGACTGACCAATGAGGGATTAGG -3'

Sequencing Primer
(F):5'- GATCTCTGGGTGCTTCAACAGATTC -3'
(R):5'- GAATTTATGACCACAGTGGGTAAACC -3'

Posted On

2019-05-13