Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:C530008M17Rik'

276715

Institutional Source

Beutler Lab

Gene Symbol

C530008M17Rik

Ensembl Gene

ENSMUSG00000036377

Gene Name

RIKEN cDNA C530008M17 gene

Synonyms

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76656512-76873554 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76840892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 30 (D30G)

Ref Sequence

ENSEMBL: ENSMUSP00000127212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000120818] [ENSMUST00000121160] [ENSMUST00000121851] [ENSMUST00000128112] [ENSMUST00000163347]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120639
AA Change: D30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: D30G

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: ENSMUST00000120818
AA Change: D30G

Predicted Effect

probably damaging
Transcript: ENSMUST00000121160
AA Change: D30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: D30G

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: ENSMUST00000121851
AA Change: D30G

Predicted Effect

probably benign
Transcript: ENSMUST00000128112

Predicted Effect

probably damaging
Transcript: ENSMUST00000163347
AA Change: D30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: D30G

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GGGACCCAGAAAACTGAATCTG -3'
(R):5'- GTGCTAAGCATGCCTCTTTAAC -3'

Sequencing Primer
(F):5'- GAATCTGGAGAAGTCATTTATCATCC -3'
(R):5'- ATGCCTCTTTAACGGGGAAC -3'

Posted On

2015-04-06