Mutagenetix > Incidental Mutations

Incidental Mutation 'R4115:BC005561'

314580

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

041630-MU

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4115 (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 104519433 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 607 (L607S)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096452
AA Change: L607S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: L607S

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: 99.2%
3x: 98.5%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd34c	A	G	9: 89,729,874	L138P	probably damaging	Het
Aplp2	C	T	9: 31,157,826	R569Q	probably benign	Het
BC035044	C	T	6: 128,890,850		probably benign	Het
Camta2	T	C	11: 70,676,474	M626V	possibly damaging	Het
Cdh7	G	A	1: 110,138,309	R771Q	probably benign	Het
Chd3	T	G	11: 69,357,517	I850L	possibly damaging	Het
Cspg4	T	A	9: 56,898,394	L2163Q	probably damaging	Het
Cyp2c66	A	G	19: 39,176,559	D328G	possibly damaging	Het
Dcun1d3	T	C	7: 119,859,734	N26S	probably benign	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Gm13083	A	G	4: 143,617,456	D442G	probably benign	Het
Gnl3	T	G	14: 31,016,856	K79Q	probably damaging	Het
Hat1	A	G	2: 71,441,222	T380A	probably benign	Het
Hectd1	A	T	12: 51,768,723	L1527*	probably null	Het
Ighv11-1	A	G	12: 113,982,065	V56A	probably benign	Het
Ism2	A	G	12: 87,287,031	I80T	probably benign	Het
Itpr2	C	T	6: 146,425,510	V120I	probably damaging	Het
Kif1a	T	A	1: 93,052,538	E823V	probably damaging	Het
Letm2	T	A	8: 25,580,327	K432*	probably null	Het
Mc4r	T	A	18: 66,859,979	Y21F	probably benign	Het
Morc3	G	A	16: 93,873,339	D801N	probably benign	Het
Mycbpap	C	A	11: 94,512,225		probably null	Het
Nfkbil1	A	G	17: 35,221,310	M129T	probably damaging	Het
Notch3	C	A	17: 32,158,433	C223F	probably damaging	Het
Nrcam	T	C	12: 44,566,326	V606A	possibly damaging	Het
Nudcd2	T	C	11: 40,736,607	M118T	probably damaging	Het
Olfr341	A	T	2: 36,479,785	L115Q	probably damaging	Het
Oraov1	G	A	7: 144,919,646	V142M	possibly damaging	Het
Pcsk5	C	T	19: 17,433,419	D1870N	unknown	Het
Pde3b	T	C	7: 114,521,727	F696L	probably damaging	Het
Pde8a	T	A	7: 81,282,807		probably null	Het
Pgm2	C	T	4: 99,962,151	Q191*	probably null	Het
Psg20	A	G	7: 18,685,980	S5P	probably damaging	Het
Reps1	C	T	10: 18,104,207	P397S	possibly damaging	Het
Sec22a	A	G	16: 35,318,832	F232S	probably damaging	Het
Spata13	G	T	14: 60,692,478	G168V	probably damaging	Het
Spta1	T	C	1: 174,240,357	W2117R	probably damaging	Het
Sptbn4	C	T	7: 27,391,570	E1399K	probably damaging	Het
Tek	T	C	4: 94,849,683	S657P	probably damaging	Het
Trpm6	T	C	19: 18,832,557	W1106R	probably damaging	Het
Tssk3	T	C	4: 129,489,507	Y124C	probably damaging	Het
Ugt2b1	A	G	5: 86,926,414	W29R	probably damaging	Het
Vmn2r97	T	C	17: 18,928,070	F76L	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
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
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'- ACTTACAACAGCCATCCACTTTTAG -3'
(R):5'- TGCCTGCCTTTAACTGATTGG -3'

Sequencing Primer
(F):5'- TAGATCGAGCCAAATACATCATGAAG -3'
(R):5'- TTGGCTACATACTGAAGAAGACC -3'

Posted On

2015-05-14