Mutagenetix > Incidental Mutations

Incidental Mutation 'R5606:BC005561'

439290

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

043157-MU

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5606 (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 104521878 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1422 (I1422T)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: I1422T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I1422T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200034

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,722,367	S75P	probably damaging	Het
Ankib1	A	T	5: 3,701,907	I711N	probably damaging	Het
Ankmy2	A	G	12: 36,165,921	N40S	probably benign	Het
Armc8	T	C	9: 99,536,262	K80E	probably benign	Het
Blm	C	A	7: 80,460,832		probably null	Het
Cand1	C	A	10: 119,211,454	Q710H	possibly damaging	Het
Ckap2l	A	T	2: 129,286,039	I73N	probably damaging	Het
Ddx27	T	A	2: 167,019,966	D129E	probably benign	Het
Dnm3	T	C	1: 162,286,018	E491G	probably damaging	Het
Fgd6	C	A	10: 94,138,328	Y1310*	probably null	Het
Gm7534	A	C	4: 134,200,212	V410G	probably benign	Het
Hnrnph3	C	T	10: 63,019,443	R21H	possibly damaging	Het
Hs3st4	C	A	7: 124,397,142	Q344K	probably damaging	Het
Hyal3	T	C	9: 107,585,066	S100P	probably benign	Het
Map3k19	G	A	1: 127,822,957	R886C	probably benign	Het
Mmrn2	G	A	14: 34,397,624	D187N	probably damaging	Het
Myo5c	G	A	9: 75,275,508	A810T	probably damaging	Het
Noxa1	T	A	2: 25,086,280	E332V	possibly damaging	Het
Olfr129	T	C	17: 38,054,802	T264A	probably damaging	Het
Olfr1356	A	G	10: 78,847,561	M118T	probably benign	Het
Olfr536	T	A	7: 140,503,800	I220F	probably damaging	Het
Olfr550	T	C	7: 102,579,274	S260P	probably damaging	Het
Parg	T	A	14: 32,262,736	V241E	probably damaging	Het
Pitrm1	T	A	13: 6,560,065	V391D	probably damaging	Het
Plch1	A	T	3: 63,740,687	V421E	probably benign	Het
Slc27a2	C	T	2: 126,564,690	A98V	probably damaging	Het
Spta1	A	T	1: 174,219,902	H1704L	probably damaging	Het
Tbpl2	G	A	2: 24,087,233	P258S	possibly damaging	Het
Tlr11	T	C	14: 50,362,260	C568R	probably benign	Het
Tmem260	T	A	14: 48,484,980	M324K	probably damaging	Het
Tmprss11g	T	A	5: 86,487,410	T402S	probably damaging	Het
Trim21	C	G	7: 102,559,606	R302P	probably damaging	Het
Uox	T	A	3: 146,610,302	Y21*	probably null	Het
Vmn1r74	A	G	7: 11,846,895	M41V	probably benign	Het
Vmn2r59	A	C	7: 42,045,894	S365A	probably benign	Het
Zfp345	A	T	2: 150,474,868	Y6*	probably null	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
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'- GCCCTCAAAAGAAAGAGATTTAGC -3'
(R):5'- TTAAGTCCAAGGGTGCCTCTC -3'

Sequencing Primer
(F):5'- AGAGATTTAGCAAAGGAAATGAAGTC -3'
(R):5'- GCCTCTCGGTCATTGTTTGAATAATC -3'

Posted On

2016-10-26