Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:C530008M17Rik'

9336

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C530008M17Rik

Ensembl Gene

ENSMUSG00000036377

Gene Name

RIKEN cDNA C530008M17 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

76656512-76873554 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 76866056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000151567] [ENSMUST00000163347]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120639
AA Change: V1137I

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: V1137I

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121160
AA Change: V1140I

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: V1140I

Domain	Start	End	E-Value	Type
Pfam:DUF4592	45	172	1.8e-41	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
low complexity region	1034	1047	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149216

Predicted Effect

probably benign
Transcript: ENSMUST00000151567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152373

Predicted Effect

unknown
Transcript: ENSMUST00000163347
AA Change: V1137I

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: V1137I

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,773,003	S416T	probably damaging	Het
4732463B04Rik	G	T	12: 84,043,804		probably benign	Het
4921501E09Rik	T	A	17: 33,065,863	H655L	probably benign	Het
Abcd1	T	C	X: 73,717,548	L173P	probably damaging	Het
Adam18	T	A	8: 24,628,133	D41V	probably damaging	Het
Aspa	T	G	11: 73,313,621		probably benign	Het
Cacna2d1	T	A	5: 16,246,656		probably benign	Het
Cubn	T	A	2: 13,278,418	I3570L	probably benign	Het
Cyp2j13	G	A	4: 96,062,038	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,239,501		probably benign	Het
Dchs1	A	T	7: 105,758,207	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,611,664	A229T	possibly damaging	Het
Dst	A	T	1: 34,188,962	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,530,939	P554L	probably damaging	Het
Fcgbp	C	A	7: 28,075,086	C28*	probably null	Het
Gm773	T	C	X: 56,202,013	D53G	probably benign	Het
Hhat	A	G	1: 192,717,017	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,645,525	S310P	probably benign	Het
Kat2a	G	A	11: 100,705,384	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,897,796	D893G	probably benign	Het
Lama2	T	C	10: 27,243,742	T709A	probably benign	Het
Mcm8	G	A	2: 132,827,537	V281I	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Nup133	T	G	8: 123,939,083	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,323,390	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,490,713	A224V	probably damaging	Het
Pla2g4e	G	A	2: 120,185,238	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754	F118L	probably damaging	Het
Sp2	C	T	11: 96,954,561	R578H	probably damaging	Het
Sphkap	A	G	1: 83,277,910	M706T	possibly damaging	Het
Tarsl2	T	C	7: 65,688,908	M689T	probably benign	Het
Trrap	T	C	5: 144,818,038	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,638,574	S203T	probably benign	Het
Txnrd1	T	G	10: 82,875,662	D42E	probably damaging	Het
Zswim8	G	A	14: 20,723,181	D1746N	probably damaging	Het

Other mutations in C530008M17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:C530008M17Rik	APN	5	76854933	critical splice acceptor site	probably null
IGL00924:C530008M17Rik	APN	5	76858986	missense	unknown
IGL01025:C530008M17Rik	APN	5	76658074	intron	probably benign
IGL01122:C530008M17Rik	APN	5	76870675	makesense	probably null
IGL01393:C530008M17Rik	APN	5	76858971	missense	unknown
IGL01526:C530008M17Rik	APN	5	76857631	missense	unknown
IGL01986:C530008M17Rik	APN	5	76858610	missense	unknown
IGL02009:C530008M17Rik	APN	5	76848970	missense	possibly damaging	0.61
IGL02724:C530008M17Rik	APN	5	76858459	missense	unknown
IGL02869:C530008M17Rik	APN	5	76859043	missense	unknown
IGL03030:C530008M17Rik	APN	5	76857616	missense	unknown
IGL03150:C530008M17Rik	APN	5	76867250	missense	probably damaging	0.99
LCD18:C530008M17Rik	UTSW	5	76658742	intron	probably benign
R0975:C530008M17Rik	UTSW	5	76856318	splice site	probably benign
R1329:C530008M17Rik	UTSW	5	76657932	intron	probably benign
R1439:C530008M17Rik	UTSW	5	76840910	missense	probably damaging	0.99
R1750:C530008M17Rik	UTSW	5	76857675	missense	unknown
R1773:C530008M17Rik	UTSW	5	76867205	missense	possibly damaging	0.54
R1885:C530008M17Rik	UTSW	5	76856742	missense	unknown
R1924:C530008M17Rik	UTSW	5	76858623	missense	unknown
R2483:C530008M17Rik	UTSW	5	76856409	missense	probably damaging	0.98
R3840:C530008M17Rik	UTSW	5	76859011	missense	unknown
R3841:C530008M17Rik	UTSW	5	76859011	missense	unknown
R3874:C530008M17Rik	UTSW	5	76840892	missense	probably damaging	1.00
R3883:C530008M17Rik	UTSW	5	76856574	missense	unknown
R4033:C530008M17Rik	UTSW	5	76858465	missense	unknown
R4401:C530008M17Rik	UTSW	5	76848916	missense	probably damaging	0.98
R4749:C530008M17Rik	UTSW	5	76858834	missense	unknown
R4884:C530008M17Rik	UTSW	5	76848835	missense	probably damaging	1.00
R4980:C530008M17Rik	UTSW	5	76857574	missense	unknown
R5010:C530008M17Rik	UTSW	5	76657834	utr 5 prime	probably benign
R5086:C530008M17Rik	UTSW	5	76857124	missense	unknown
R5468:C530008M17Rik	UTSW	5	76840763	intron	probably benign
R5786:C530008M17Rik	UTSW	5	76866196	splice site	probably null
R5813:C530008M17Rik	UTSW	5	76858428	missense	unknown
R5866:C530008M17Rik	UTSW	5	76857537	missense	unknown
R5928:C530008M17Rik	UTSW	5	76841734	intron	probably benign
R6273:C530008M17Rik	UTSW	5	76857721	missense	unknown
R6577:C530008M17Rik	UTSW	5	76866100	unclassified	probably benign
R6838:C530008M17Rik	UTSW	5	76858209	missense	unknown
R6849:C530008M17Rik	UTSW	5	76857010	missense	unknown
R6849:C530008M17Rik	UTSW	5	76857157	missense	unknown
R6914:C530008M17Rik	UTSW	5	76857007	missense	unknown
R7017:C530008M17Rik	UTSW	5	76856948	small deletion	probably benign
R7094:C530008M17Rik	UTSW	5	76859032	missense	unknown
R7367:C530008M17Rik	UTSW	5	76856602	missense	unknown
R7394:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R7436:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R7443:C530008M17Rik	UTSW	5	76856638	missense	unknown
R7500:C530008M17Rik	UTSW	5	76658058	missense	unknown
R7566:C530008M17Rik	UTSW	5	76866275	splice site	probably null
R7633:C530008M17Rik	UTSW	5	76857520	missense	unknown
R7728:C530008M17Rik	UTSW	5	76857469	missense	unknown
R7930:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R7985:C530008M17Rik	UTSW	5	76658050	missense	unknown
R8154:C530008M17Rik	UTSW	5	76841797	missense	unknown
R8463:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R8547:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R8805:C530008M17Rik	UTSW	5	76858642	missense	unknown
R8819:C530008M17Rik	UTSW	5	76856946	small deletion	probably benign
R8888:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R9256:C530008M17Rik	UTSW	5	76840910	missense	unknown
R9358:C530008M17Rik	UTSW	5	76854989	missense	probably damaging	1.00
R9417:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R9618:C530008M17Rik	UTSW	5	76856770	missense	unknown
R9628:C530008M17Rik	UTSW	5	76857076	missense	unknown
R9639:C530008M17Rik	UTSW	5	76858150	missense	unknown
R9762:C530008M17Rik	UTSW	5	76858708	missense	unknown
R9785:C530008M17Rik	UTSW	5	76867181	missense	unknown
Z1176:C530008M17Rik	UTSW	5	76857246	missense	unknown

Posted On

2012-12-06