Mutagenetix > Incidental Mutation

Incidental Mutation 'R6273:C530008M17Rik'

507451

Institutional Source

Beutler Lab

Gene Symbol

C530008M17Rik

Ensembl Gene

ENSMUSG00000036377

Gene Name

RIKEN cDNA C530008M17 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76656512-76873554 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76857721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 643 (D643V)

Ref Sequence

ENSEMBL: ENSMUSP00000127212 (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: D643V

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: D643V

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: D643V

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: D643V

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: ENSMUST00000152373

Predicted Effect

unknown
Transcript: ENSMUST00000163347
AA Change: D643V

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: D643V

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

Meta Mutation Damage Score

0.0884

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,218	I99N	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankrd31	A	G	13: 96,851,673	I1065V	possibly damaging	Het
Aox2	A	G	1: 58,339,672	T1027A	probably benign	Het
Atm	G	A	9: 53,487,922	P1593L	probably benign	Het
Atp13a5	T	G	16: 29,348,737	I132L	probably benign	Het
BC035044	A	G	6: 128,890,889		probably benign	Het
Cadm3	CT	C	1: 173,349,124		probably benign	Homo
Car3	C	T	3: 14,871,617	P247S	probably benign	Het
Ccdc7a	T	C	8: 128,787,338	Y160C	probably damaging	Het
Cd1d1	A	G	3: 86,998,257	V143A	probably benign	Het
Cog6	A	T	3: 52,996,052	F142I	probably damaging	Het
Crhr1	T	G	11: 104,163,856	N98K	possibly damaging	Het
Csf1	A	G	3: 107,749,163	V72A	probably damaging	Het
Cwc15	T	A	9: 14,510,241	I201K	probably benign	Het
Dgka	T	C	10: 128,723,646	K482R	probably benign	Het
Dnah7b	T	C	1: 46,242,316	S2846P	possibly damaging	Het
Dst	T	A	1: 34,275,266	I4199N	probably damaging	Het
Dusp7	A	G	9: 106,373,896	T407A	possibly damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fem1a	T	C	17: 56,257,083	Y59H	possibly damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Filip1	A	T	9: 79,815,886	D1150E	probably benign	Het
Gabra1	A	G	11: 42,140,311	V264A	probably damaging	Het
Gm4131	T	C	14: 62,464,850	E223G	probably damaging	Het
Gon4l	T	C	3: 88,855,849	V333A	probably damaging	Het
Gsk3b	A	G	16: 38,208,046	T289A	probably benign	Het
Hmcn2	T	C	2: 31,411,834	S2912P	probably damaging	Het
Htr7	A	T	19: 36,041,569		probably benign	Het
Ibsp	A	G	5: 104,310,301	T235A	probably benign	Het
Ints13	A	T	6: 146,565,681	D116E	probably damaging	Het
Kctd19	T	C	8: 105,385,485	N753S	probably benign	Het
Mdn1	A	G	4: 32,715,979	N2054D	probably benign	Het
Mink1	A	T	11: 70,611,435	K880*	probably null	Het
Mrvi1	G	T	7: 110,871,583	H848N	probably benign	Het
Myo15b	T	A	11: 115,862,799	L824Q	possibly damaging	Het
Napepld	T	C	5: 21,665,322	E366G	probably benign	Het
Obscn	T	A	11: 59,076,993	T2662S	possibly damaging	Het
Olfr130	T	G	17: 38,067,795	L208R	probably damaging	Het
Olfr1302	T	C	2: 111,781,222	F301L	probably benign	Het
Olfr133	T	A	17: 38,148,942	M118K	possibly damaging	Het
Olfr1448	A	G	19: 12,919,400	V303A	probably benign	Het
Olfr213	A	G	6: 116,541,316	T288A	possibly damaging	Het
Olfr656	A	G	7: 104,617,895	D72G	probably damaging	Het
Pah	T	C	10: 87,576,215		probably null	Het
Panx3	T	G	9: 37,667,429	I85L	probably benign	Het
Pate4	T	C	9: 35,607,790	N94D	probably benign	Het
Pde4d	A	G	13: 109,950,221	M610V	possibly damaging	Het
Pik3c2b	T	C	1: 133,066,711	S138P	probably benign	Het
Pkn1	T	C	8: 83,672,270	N696S	probably damaging	Het
Plppr2	A	G	9: 21,944,505	E258G	probably damaging	Het
Plxnd1	A	T	6: 115,978,492	M538K	probably damaging	Het
Prepl	G	T	17: 85,083,268	N87K	probably benign	Het
Prkag2	C	A	5: 24,947,536	R190L	probably damaging	Het
Rara	A	G	11: 98,970,222	T179A	probably benign	Het
Rfx7	A	G	9: 72,616,997	K490E	possibly damaging	Het
Rgsl1	C	T	1: 153,827,465	V147M	possibly damaging	Het
Rph3a	A	G	5: 120,945,422	I595T	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc8a2	T	C	7: 16,145,334	F582L	possibly damaging	Het
Sprr2e	A	G	3: 92,352,864	M1V	probably null	Het
Steap1	T	A	5: 5,740,827	R40S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Thsd7a	A	T	6: 12,408,836	V729E	probably damaging	Het
Tmem2	T	A	19: 21,802,005	V393E	probably damaging	Het
Tmprss13	A	G	9: 45,345,332	Y525C	probably damaging	Het
Tnik	A	T	3: 28,577,500	H383L	possibly damaging	Het
Vars	T	C	17: 35,013,743	L881S	probably damaging	Het
Vmn1r201	A	C	13: 22,475,215	S200R	probably damaging	Het
Vmn2r14	A	T	5: 109,221,267	W147R	probably benign	Het
Vmn2r-ps130	A	T	17: 23,076,785	H643L	probably benign	Het
Vps53	T	C	11: 76,102,018	E367G	probably benign	Het
Xab2	C	T	8: 3,611,822	G544S	probably damaging	Het
Ythdf3	T	A	3: 16,204,856	V400E	possibly damaging	Het
Zfand5	C	T	19: 21,279,696	P147S	probably benign	Het
Zfp768	A	T	7: 127,345,147		probably null	Het
Zswim8	A	G	14: 20,713,453	M423V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GAATGAAGCTACTGCGGCAG -3'
(R):5'- CGCATTGCTTGGTGACTCTG -3'

Sequencing Primer
(F):5'- GCTACTGCGGCAGACATAGAC -3'
(R):5'- TTCTTCTGACAGCCCCAGGAG -3'

Posted On

2018-03-15