Mutagenetix > Incidental Mutations

Incidental Mutation 'R4711:BC005561'

353262

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R4711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104519661 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 683 (V683A)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096452
AA Change: V683A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: V683A

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg14	G	A	14: 47,545,841	R346C	probably damaging	Het
BC037034	T	C	5: 138,262,905		probably benign	Het
Bin3	A	G	14: 70,128,839		probably null	Het
Ccser1	A	G	6: 61,311,926	N358D	possibly damaging	Het
Col20a1	G	C	2: 180,992,491	G83A	probably damaging	Het
Copa	T	G	1: 172,119,988	F1124V	probably damaging	Het
Cyp2c66	G	A	19: 39,163,399	R186H	possibly damaging	Het
Dmxl2	G	A	9: 54,450,924	T323M	probably benign	Het
Dner	T	C	1: 84,383,897	I664V	possibly damaging	Het
Erp29	A	G	5: 121,445,230	I211T	possibly damaging	Het
Exd1	A	G	2: 119,538,751	S128P	possibly damaging	Het
Gm8394	A	G	10: 85,313,803		noncoding transcript	Het
Grik4	T	A	9: 42,629,093	N264Y	probably damaging	Het
Gsdma2	T	A	11: 98,649,613	S119R	probably damaging	Het
Hist1h2aa	C	T	13: 23,934,813	P118S	possibly damaging	Het
Ift140	T	A	17: 25,094,717		probably null	Het
Ino80c	T	C	18: 24,114,165	N59S	probably benign	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Mast4	A	G	13: 103,334,119	V25A	probably benign	Het
Mr1	T	C	1: 155,136,590	T193A	probably benign	Het
Muc5b	C	A	7: 141,846,033	F414L	unknown	Het
Nat10	A	T	2: 103,748,267	C197*	probably null	Het
Nt5c1b	A	G	12: 10,370,093	K11E	probably damaging	Het
Olfr1104	T	C	2: 87,022,026	I173V	probably damaging	Het
Olfr175-ps1	A	T	16: 58,824,706	M1K	probably null	Het
Pak7	A	G	2: 136,087,517	I582T	probably damaging	Het
Pcdha12	A	G	18: 37,020,923	I232V	probably benign	Het
Pde8b	T	A	13: 95,030,450	T664S	probably benign	Het
Pdik1l	G	C	4: 134,278,990	R214G	probably benign	Het
Prss37	C	T	6: 40,515,447	V157M	probably benign	Het
Ring1	T	C	17: 34,022,359	E261G	possibly damaging	Het
Sf3a3	C	A	4: 124,728,181	D371E	probably benign	Het
Spag9	T	A	11: 94,114,351		probably null	Het
Spred1	T	A	2: 117,175,385	S209R	probably benign	Het
Tas2r121	T	C	6: 132,700,890	T40A	probably benign	Het
Tbc1d5	T	C	17: 50,935,509	T187A	probably damaging	Het
Tenm2	C	T	11: 36,300,212	V311I	probably damaging	Het
Tnrc6a	A	G	7: 123,171,078	D697G	probably damaging	Het
Ttn	G	A	2: 76,830,060	A7439V	possibly damaging	Het
Wdr64	T	C	1: 175,799,229	I838T	probably damaging	Het
Wdr7	A	G	18: 63,728,465	T183A	probably benign	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
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
R6352:BC005561	UTSW	5	104520198	missense	probably benign	0.11
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'- GCGTTGAATTACGATGTTTTAGCC -3'
(R):5'- GCAAGATCATGGTCCAGTAGTG -3'

Sequencing Primer
(F):5'- GCCTATTGTATCATTGAAGCACTAGC -3'
(R):5'- AGATCATGGTCCAGTAGTGCATCC -3'

Posted On

2015-10-21