Mutagenetix > Incidental Mutations

Incidental Mutation 'R6352:BC005561'

513278

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R6352 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104520198 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 862 (E862G)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096452]

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: E862G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: E862G

Domain	Start	End	E-Value	Type
Pfam:THOC2_N	10	424	3.5e-65	PFAM
Pfam:THOC2_N	415	566	5.8e-32	PFAM
Pfam:Thoc2	568	643	8.3e-40	PFAM
low complexity region	729	747	N/A	INTRINSIC
Pfam:Tho2	873	1173	1.1e-105	PFAM
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1266	1283	N/A	INTRINSIC
coiled coil region	1310	1335	N/A	INTRINSIC
low complexity region	1355	1366	N/A	INTRINSIC
low complexity region	1459	1482	N/A	INTRINSIC
low complexity region	1524	1543	N/A	INTRINSIC
low complexity region	1561	1569	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,037,136	S120G	probably benign	Het
Abca13	G	A	11: 9,309,139		probably null	Het
Aco1	G	A	4: 40,186,367	R593Q	probably benign	Het
Adgra3	T	A	5: 49,979,136	D669V	probably benign	Het
Adgra3	T	A	5: 49,990,250	M483L	probably benign	Het
Ccdc42	T	C	11: 68,594,365	V88A	probably damaging	Het
Cdh16	G	C	8: 104,616,992	S624C	probably damaging	Het
Cpt1c	A	T	7: 44,966,795		probably null	Het
Cul9	T	C	17: 46,511,315	T1795A	probably benign	Het
Dnah2	C	T	11: 69,448,227	V3098I	probably damaging	Het
Fam126b	A	G	1: 58,557,312	V38A	probably damaging	Het
Fbxl16	T	C	17: 25,818,945	L426P	probably damaging	Het
Flt4	T	C	11: 49,643,506	I1168T	probably benign	Het
Fmo5	T	C	3: 97,645,675	V313A	probably benign	Het
Foxj3	A	G	4: 119,585,778	N133S	probably damaging	Het
Gbp8	T	C	5: 105,015,060	I489M	possibly damaging	Het
Gm10801	TC	TCGAC	2: 98,663,806		probably benign	Het
Hdgfl1	T	G	13: 26,769,750	E113D	probably benign	Het
Heatr5a	A	T	12: 51,951,166	S317T	possibly damaging	Het
Insr	C	T	8: 3,173,479		probably null	Het
Iqcf5	A	G	9: 106,515,730	E62G	possibly damaging	Het
Kcnj3	G	A	2: 55,437,549	V117I	probably benign	Het
Klf9	T	A	19: 23,141,774	M7K	probably benign	Het
Mboat1	G	A	13: 30,202,420	G139E	possibly damaging	Het
Mical3	T	C	6: 120,952,473	T1811A	probably damaging	Het
Mllt10	A	C	2: 18,123,793	K117T	probably damaging	Het
Mpped1	A	G	15: 83,836,363	D8G	probably damaging	Het
Myh4	A	T	11: 67,252,282	D1012V	probably damaging	Het
Myo9b	C	A	8: 71,348,410	P1070T	probably benign	Het
Myo9b	C	T	8: 71,348,411	P1071L	probably benign	Het
Nlrp1b	T	A	11: 71,181,701	I439F	probably damaging	Het
Nlrp9a	T	A	7: 26,557,626	I134N	probably damaging	Het
Nop2	C	T	6: 125,137,207	T212M	probably benign	Het
Notch4	T	C	17: 34,567,461	C188R	probably damaging	Het
Olfr1495	A	T	19: 13,768,464	M41L	probably benign	Het
Olfr703	G	T	7: 106,845,222	V204F	probably damaging	Het
Pgd	C	T	4: 149,160,752		probably null	Het
Plet1	T	C	9: 50,501,107	S142P	probably damaging	Het
Ptk7	A	T	17: 46,576,890	W539R	probably benign	Het
Ptprd	A	T	4: 76,091,552		probably null	Het
Rgs22	T	G	15: 36,092,921	Q402P	probably damaging	Het
Rpl10a	T	C	17: 28,330,846	V167A	possibly damaging	Het
Sdr16c5	A	G	4: 4,016,421	S2P	probably benign	Het
Slc14a2	T	C	18: 78,209,094	M1V	probably null	Het
Spta1	T	A	1: 174,211,646	M1185K	possibly damaging	Het
Syde2	G	T	3: 145,998,474	E127*	probably null	Het
Ugt2b38	T	A	5: 87,424,001	R57S	possibly damaging	Het
Wdr11	C	T	7: 129,606,675	L385F	possibly damaging	Het
Wdr74	T	C	19: 8,739,458	V200A	possibly damaging	Het

Other mutations in BC005561

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:BC005561	APN	5	104520500	missense	probably damaging	1.00
IGL01024:BC005561	APN	5	104521746	missense	probably benign	0.02
IGL01133:BC005561	APN	5	104517662	missense	probably benign
IGL01564:BC005561	APN	5	104520663	missense	probably benign	0.12
IGL01727:BC005561	APN	5	104519513	missense	probably benign	0.01
IGL02086:BC005561	APN	5	104519001	missense	possibly damaging	0.49
IGL02153:BC005561	APN	5	104521083	missense	probably benign	0.02
IGL02256:BC005561	APN	5	104520283	nonsense	probably null
IGL02436:BC005561	APN	5	104521155	missense	probably benign	0.10
IGL02969:BC005561	APN	5	104519343	missense	probably benign	0.01
IGL03275:BC005561	APN	5	104518277	missense	probably benign	0.00
IGL03357:BC005561	APN	5	104520468	missense	probably damaging	1.00
F2404:BC005561	UTSW	5	104520230	missense	possibly damaging	0.83
R0318:BC005561	UTSW	5	104517753	missense	probably benign	0.00
R0349:BC005561	UTSW	5	104519976	missense	possibly damaging	0.85
R0454:BC005561	UTSW	5	104518211	missense	probably benign	0.45
R0742:BC005561	UTSW	5	104522154	missense	probably benign	0.00
R0842:BC005561	UTSW	5	104519200	missense	possibly damaging	0.81
R0882:BC005561	UTSW	5	104519009	missense	probably benign	0.05
R1123:BC005561	UTSW	5	104518470	missense	probably damaging	1.00
R1171:BC005561	UTSW	5	104520903	missense	possibly damaging	0.49
R1205:BC005561	UTSW	5	104520213	missense	probably benign	0.28
R1261:BC005561	UTSW	5	104520635	missense	probably damaging	0.98
R1432:BC005561	UTSW	5	104518104	missense	probably damaging	1.00
R1447:BC005561	UTSW	5	104522204	missense	possibly damaging	0.89
R1466:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1466:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1584:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1636:BC005561	UTSW	5	104520750	missense	probably damaging	0.99
R1686:BC005561	UTSW	5	104519923	nonsense	probably null
R1698:BC005561	UTSW	5	104520510	missense	probably benign	0.09
R1816:BC005561	UTSW	5	104517834	missense	probably benign	0.16
R1903:BC005561	UTSW	5	104518330	missense	probably benign	0.00
R2096:BC005561	UTSW	5	104519969	missense	possibly damaging	0.95
R2146:BC005561	UTSW	5	104518991	missense	probably benign
R2226:BC005561	UTSW	5	104519420	missense	probably damaging	1.00
R2227:BC005561	UTSW	5	104519420	missense	probably damaging	1.00
R2383:BC005561	UTSW	5	104518988	missense	probably benign	0.23
R2656:BC005561	UTSW	5	104519315	missense	probably benign	0.05
R3982:BC005561	UTSW	5	104521023	missense	probably benign	0.29
R3983:BC005561	UTSW	5	104521023	missense	probably benign	0.29
R4115:BC005561	UTSW	5	104519433	missense	probably damaging	1.00
R4345:BC005561	UTSW	5	104521449	missense	probably benign	0.21
R4697:BC005561	UTSW	5	104522240	missense	probably benign	0.00
R4711:BC005561	UTSW	5	104519661	missense	probably damaging	0.98
R4742:BC005561	UTSW	5	104518857	missense	probably benign	0.17
R4758:BC005561	UTSW	5	104520399	missense	possibly damaging	0.48
R4863:BC005561	UTSW	5	104517750	missense	possibly damaging	0.89
R4867:BC005561	UTSW	5	104521002	missense	possibly damaging	0.91
R5024:BC005561	UTSW	5	104522258	missense	possibly damaging	0.68
R5114:BC005561	UTSW	5	104519876	missense	probably damaging	0.99
R5117:BC005561	UTSW	5	104520255	missense	probably damaging	1.00
R5289:BC005561	UTSW	5	104519657	missense	probably benign	0.03
R5341:BC005561	UTSW	5	104518076	missense	probably damaging	1.00
R5420:BC005561	UTSW	5	104518359	missense	probably damaging	0.99
R5421:BC005561	UTSW	5	104518395	missense	probably benign	0.01
R5422:BC005561	UTSW	5	104519646	missense	probably damaging	0.98
R5606:BC005561	UTSW	5	104521878	missense	probably benign	0.00
R5939:BC005561	UTSW	5	104519207	missense	possibly damaging	0.56
R6104:BC005561	UTSW	5	104518218	missense	probably damaging	1.00
R6169:BC005561	UTSW	5	104518396	missense	probably benign	0.00
R6316:BC005561	UTSW	5	104519729	missense	probably damaging	1.00
R6408:BC005561	UTSW	5	104518777	missense	probably benign	0.19
R6458:BC005561	UTSW	5	104522303	missense	probably benign	0.02
R6722:BC005561	UTSW	5	104520279	missense	probably damaging	0.99
R6789:BC005561	UTSW	5	104517689	missense	probably benign	0.00
R7214:BC005561	UTSW	5	104522363	missense	probably benign
R7494:BC005561	UTSW	5	104518418	missense	possibly damaging	0.90
R7733:BC005561	UTSW	5	104519960	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGAATTTCATACACCCCATGATGC -3'
(R):5'- CTTCAAGAAGCTTGTCCTGC -3'

Sequencing Primer
(F):5'- TGTCTCGGCCAATGTATG -3'
(R):5'- GCAGTGCAGCGCTCTTTC -3'

Posted On

2018-04-27