Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:C530008M17Rik'

589750

Institutional Source

Beutler Lab

Gene Symbol

C530008M17Rik

Ensembl Gene

ENSMUSG00000036377

Gene Name

RIKEN cDNA C530008M17 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76656512-76873554 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76857520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 576 (E576G)

Ref Sequence

ENSEMBL: ENSMUSP00000113796 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120639
AA Change: E576G

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: E576G

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: E576G

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: E576G

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

unknown
Transcript: ENSMUST00000163347
AA Change: E576G

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: E576G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	C	A	11: 58,447,478	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Acaca	A	G	11: 84,372,639	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399		probably null	Het
Cd46	A	T	1: 195,083,619	M146K	probably null	Het
Chp1	A	G	2: 119,560,745	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453	L88R	probably benign	Het
Dedd	C	T	1: 171,338,910	P138L	probably benign	Het
Degs1	A	G	1: 182,279,698	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908	T121M	possibly damaging	Het
Gm14085	A	T	2: 122,486,680	R7S	probably null	Het
Gm21731	G	A	13: 120,240,840	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399		probably benign	Het
Ikbkb	T	C	8: 22,671,741	N377S	probably benign	Het
Intu	G	A	3: 40,654,253	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,956,151	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,552,436	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654	A200V	probably damaging	Het
Qrich2	A	T	11: 116,456,629	I1123K	unknown	Het
Rgs1	A	G	1: 144,248,477		probably null	Het
Skint7	T	A	4: 111,984,140	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042		probably null	Het
Slco1a6	A	T	6: 142,145,755	I73N	probably damaging	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Spock2	G	A	10: 60,126,180	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006		probably null	Het
Tyw5	A	T	1: 57,393,485	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,425,089	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,318,996	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824	F240L	possibly damaging	Het

Other mutations in C530008M17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:C530008M17Rik	APN	5	76866056	unclassified	probably benign
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
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
Z1176:C530008M17Rik	UTSW	5	76857246	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAACGGACGATGCTGACCAG -3'
(R):5'- ACCAAAATGGCCGTGTGTG -3'

Sequencing Primer
(F):5'- CGGGACCTTGAGAAGCCAG -3'
(R):5'- TTACCGGGCTCAGGTTGAC -3'

Posted On

2019-10-24