Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03183:Spata31d1c'

412322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03183

Quality Score

Status

Chromosome

Chromosomal Location

65180872-65185816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65183009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 184 (I184F)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

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

AlphaFold

E9QAF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099427
AA Change: I184F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: I184F

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh6a1	A	G	12: 84,483,214 (GRCm39)		probably null	Het
Ano2	A	T	6: 125,687,592 (GRCm39)	K32N	probably benign	Het
Asic1	A	G	15: 99,569,898 (GRCm39)	H73R	probably benign	Het
B3glct	A	G	5: 149,677,607 (GRCm39)	D412G	probably damaging	Het
Baz2b	T	C	2: 59,733,640 (GRCm39)	I1891V	probably benign	Het
Cc2d2a	A	G	5: 43,889,721 (GRCm39)	E1278G	probably damaging	Het
Ccdc116	T	C	16: 16,960,718 (GRCm39)	E33G	probably benign	Het
Celf4	T	A	18: 25,670,796 (GRCm39)	Q129L	probably benign	Het
Celf4	G	T	18: 25,670,797 (GRCm39)	Q129K	probably benign	Het
Cfap251	A	G	5: 123,392,682 (GRCm39)		probably benign	Het
Col18a1	A	G	10: 76,909,588 (GRCm39)	S817P	probably damaging	Het
Corin	A	G	5: 72,458,929 (GRCm39)	V940A	probably damaging	Het
Dlgap2	A	T	8: 14,777,525 (GRCm39)	N257Y	possibly damaging	Het
Dnah2	C	A	11: 69,349,314 (GRCm39)	V2441L	possibly damaging	Het
Evpl	C	T	11: 116,112,438 (GRCm39)	E1751K	probably damaging	Het
Fat1	G	A	8: 45,403,623 (GRCm39)	E125K	probably damaging	Het
Fras1	A	T	5: 96,881,640 (GRCm39)		probably benign	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
G3bp2	A	C	5: 92,202,905 (GRCm39)	M362R	possibly damaging	Het
Grk5	T	C	19: 61,057,774 (GRCm39)	F158S	probably damaging	Het
Hmbox1	G	T	14: 65,125,048 (GRCm39)	Q188K	probably damaging	Het
Ift172	A	T	5: 31,429,348 (GRCm39)	D604E	probably benign	Het
Igkv6-32	T	A	6: 70,051,556 (GRCm39)	T5S	probably benign	Het
Impa1	A	G	3: 10,388,054 (GRCm39)	Y123H	probably damaging	Het
Itgb4	C	T	11: 115,879,550 (GRCm39)	T612M	probably damaging	Het
Med12l	T	A	3: 58,944,976 (GRCm39)		probably null	Het
Meis2	A	G	2: 115,890,002 (GRCm39)	L160S	probably damaging	Het
Micu1	C	T	10: 59,563,870 (GRCm39)	R31*	probably null	Het
Nlrp9a	G	T	7: 26,256,882 (GRCm39)	A167S	probably damaging	Het
Or10j27	A	G	1: 172,958,425 (GRCm39)	Y120H	probably damaging	Het
Or4d10	A	T	19: 12,051,392 (GRCm39)	N201K	probably damaging	Het
Plpp6	A	G	19: 28,942,071 (GRCm39)	N224S	possibly damaging	Het
Sdk2	T	A	11: 113,741,810 (GRCm39)	H803L	probably benign	Het
Shld2	T	C	14: 33,967,143 (GRCm39)	T690A	probably benign	Het
Slc36a1	T	A	11: 55,119,017 (GRCm39)	Y331N	probably damaging	Het
Stat3	T	C	11: 100,793,582 (GRCm39)	I338V	possibly damaging	Het
Stk10	T	A	11: 32,554,143 (GRCm39)	V610E	possibly damaging	Het
Syna	A	G	5: 134,587,144 (GRCm39)	S602P	probably benign	Het
Tap2	T	A	17: 34,424,399 (GRCm39)		probably benign	Het
Tln1	T	C	4: 43,539,084 (GRCm39)		probably benign	Het
Tra2b	C	A	16: 22,073,303 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,339,968 (GRCm39)		probably null	Het
Vmn2r121	G	A	X: 123,042,023 (GRCm39)	T378I	probably benign	Het
Wdr1	A	T	5: 38,690,825 (GRCm39)		probably null	Het

Other mutations in Spata31d1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Spata31d1c	APN	13	65,183,903 (GRCm39)	missense	probably damaging	1.00
IGL02830:Spata31d1c	APN	13	65,183,180 (GRCm39)	missense	probably benign	0.25
IGL02947:Spata31d1c	APN	13	65,182,759 (GRCm39)	nonsense	probably null
IGL03133:Spata31d1c	APN	13	65,182,799 (GRCm39)	missense	probably benign	0.18
IGL03176:Spata31d1c	APN	13	65,184,825 (GRCm39)	missense	probably benign	0.01
IGL03206:Spata31d1c	APN	13	65,183,407 (GRCm39)	missense	probably benign	0.41
PIT4382001:Spata31d1c	UTSW	13	65,183,985 (GRCm39)	missense	probably benign	0.01
R0054:Spata31d1c	UTSW	13	65,180,876 (GRCm39)	start gained	probably benign
R0959:Spata31d1c	UTSW	13	65,184,129 (GRCm39)	missense	probably damaging	1.00
R1232:Spata31d1c	UTSW	13	65,184,428 (GRCm39)	missense	probably benign
R1347:Spata31d1c	UTSW	13	65,183,202 (GRCm39)	missense	probably benign	0.00
R1347:Spata31d1c	UTSW	13	65,183,202 (GRCm39)	missense	probably benign	0.00
R1381:Spata31d1c	UTSW	13	65,184,368 (GRCm39)	missense	probably benign	0.08
R1573:Spata31d1c	UTSW	13	65,182,883 (GRCm39)	missense	possibly damaging	0.92
R1582:Spata31d1c	UTSW	13	65,181,038 (GRCm39)	missense	probably benign
R1639:Spata31d1c	UTSW	13	65,183,853 (GRCm39)	missense	probably benign
R1716:Spata31d1c	UTSW	13	65,181,030 (GRCm39)	missense	possibly damaging	0.86
R1781:Spata31d1c	UTSW	13	65,183,985 (GRCm39)	missense	probably benign	0.01
R1907:Spata31d1c	UTSW	13	65,183,690 (GRCm39)	missense	probably benign	0.03
R2012:Spata31d1c	UTSW	13	65,183,041 (GRCm39)	missense	possibly damaging	0.91
R2152:Spata31d1c	UTSW	13	65,181,779 (GRCm39)	critical splice donor site	probably null
R2211:Spata31d1c	UTSW	13	65,183,753 (GRCm39)	missense	probably benign	0.04
R2571:Spata31d1c	UTSW	13	65,184,198 (GRCm39)	missense	probably damaging	1.00
R2908:Spata31d1c	UTSW	13	65,181,005 (GRCm39)	missense	possibly damaging	0.63
R3978:Spata31d1c	UTSW	13	65,182,974 (GRCm39)	missense	possibly damaging	0.61
R3979:Spata31d1c	UTSW	13	65,182,974 (GRCm39)	missense	possibly damaging	0.61
R3980:Spata31d1c	UTSW	13	65,182,974 (GRCm39)	missense	possibly damaging	0.61
R3981:Spata31d1c	UTSW	13	65,182,925 (GRCm39)	missense	possibly damaging	0.68
R4014:Spata31d1c	UTSW	13	65,183,213 (GRCm39)	missense	probably damaging	0.99
R4255:Spata31d1c	UTSW	13	65,183,531 (GRCm39)	missense	probably benign	0.04
R4255:Spata31d1c	UTSW	13	65,183,502 (GRCm39)	nonsense	probably null
R4592:Spata31d1c	UTSW	13	65,183,874 (GRCm39)	missense	probably damaging	0.99
R4597:Spata31d1c	UTSW	13	65,183,427 (GRCm39)	nonsense	probably null
R4624:Spata31d1c	UTSW	13	65,184,411 (GRCm39)	missense	probably benign
R4641:Spata31d1c	UTSW	13	65,182,862 (GRCm39)	missense	probably benign	0.01
R4863:Spata31d1c	UTSW	13	65,183,604 (GRCm39)	nonsense	probably null
R5084:Spata31d1c	UTSW	13	65,182,944 (GRCm39)	missense	probably damaging	0.98
R5152:Spata31d1c	UTSW	13	65,183,409 (GRCm39)	missense	probably damaging	1.00
R5230:Spata31d1c	UTSW	13	65,183,248 (GRCm39)	missense	probably benign	0.41
R5267:Spata31d1c	UTSW	13	65,183,718 (GRCm39)	missense	probably damaging	0.98
R5615:Spata31d1c	UTSW	13	65,183,078 (GRCm39)	missense	possibly damaging	0.61
R5755:Spata31d1c	UTSW	13	65,184,341 (GRCm39)	missense	probably benign	0.12
R5935:Spata31d1c	UTSW	13	65,184,894 (GRCm39)	missense	possibly damaging	0.68
R6017:Spata31d1c	UTSW	13	65,182,893 (GRCm39)	missense	possibly damaging	0.91
R6131:Spata31d1c	UTSW	13	65,183,485 (GRCm39)	missense	probably benign	0.10
R6359:Spata31d1c	UTSW	13	65,183,406 (GRCm39)	missense	possibly damaging	0.63
R6723:Spata31d1c	UTSW	13	65,183,758 (GRCm39)	missense	probably benign	0.01
R7028:Spata31d1c	UTSW	13	65,183,877 (GRCm39)	missense	probably damaging	0.98
R7336:Spata31d1c	UTSW	13	65,183,942 (GRCm39)	missense	probably damaging	0.99
R7426:Spata31d1c	UTSW	13	65,183,175 (GRCm39)	missense	probably benign
R7552:Spata31d1c	UTSW	13	65,183,937 (GRCm39)	missense	probably damaging	0.98
R7605:Spata31d1c	UTSW	13	65,183,654 (GRCm39)	missense	probably benign	0.00
R7666:Spata31d1c	UTSW	13	65,183,814 (GRCm39)	missense	probably benign	0.01
R8403:Spata31d1c	UTSW	13	65,184,044 (GRCm39)	missense	probably benign	0.42
R8445:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8513:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8515:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8523:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8799:Spata31d1c	UTSW	13	65,184,140 (GRCm39)	missense	possibly damaging	0.92
R8817:Spata31d1c	UTSW	13	65,182,376 (GRCm39)	missense	probably damaging	0.98
R8854:Spata31d1c	UTSW	13	65,183,804 (GRCm39)	missense	possibly damaging	0.82
R8917:Spata31d1c	UTSW	13	65,183,429 (GRCm39)	missense	probably benign	0.02
R9084:Spata31d1c	UTSW	13	65,182,959 (GRCm39)	missense	probably benign
R9197:Spata31d1c	UTSW	13	65,183,690 (GRCm39)	missense	probably benign	0.01
R9201:Spata31d1c	UTSW	13	65,184,773 (GRCm39)	missense	possibly damaging	0.48
R9261:Spata31d1c	UTSW	13	65,184,680 (GRCm39)	missense	probably damaging	0.99
R9516:Spata31d1c	UTSW	13	65,184,040 (GRCm39)	missense	probably damaging	1.00
X0022:Spata31d1c	UTSW	13	65,184,741 (GRCm39)	missense	probably benign	0.35

Posted On

2016-08-02