Mutagenetix > Incidental Mutations

Incidental Mutation 'R6408:BC005561'

514529

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: 0.939) question?

Stock #

R6408 (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 104518777 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 388 (I388M)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: I388M

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I388M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.2%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,543,992	S50P	probably damaging	Het
4930407I10Rik	T	C	15: 82,065,106	V1068A	possibly damaging	Het
Acss1	A	G	2: 150,628,492		probably null	Het
Amer2	T	C	14: 60,380,225	I497T	probably damaging	Het
Azi2	A	T	9: 118,061,482	R51*	probably null	Het
Brdt	A	G	5: 107,385,492	D946G	probably damaging	Het
Bzw2	C	T	12: 36,107,525	V314I	possibly damaging	Het
Capn13	A	T	17: 73,365,959	Y116*	probably null	Het
Clca4b	A	G	3: 144,919,275	I485T	probably benign	Het
Crybg3	T	A	16: 59,495,690	T1130S	possibly damaging	Het
Cubn	C	T	2: 13,294,203	V3220M	probably damaging	Het
Cyp4f16	T	A	17: 32,551,199	L514Q	probably damaging	Het
D7Ertd443e	G	T	7: 134,349,711	Q31K	probably benign	Het
Dcaf15	T	C	8: 84,104,726	E8G	probably benign	Het
Ddx24	A	C	12: 103,425,560		probably benign	Het
Diaph3	T	C	14: 86,828,994	M988V	possibly damaging	Het
Dlx4	A	G	11: 95,145,252	V77A	probably benign	Het
Dnah3	T	C	7: 119,922,968		probably null	Het
Drc1	A	G	5: 30,356,288	E396G	probably benign	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Gbp2b	T	C	3: 142,618,138	L568S	probably benign	Het
Gjb5	A	T	4: 127,356,147	F68Y	probably benign	Het
Gm17359	A	G	3: 79,449,399	R170G	probably benign	Het
Gm9008	A	G	6: 76,496,458	C392R	probably damaging	Het
Hs6st3	C	A	14: 119,138,634	P74T	probably benign	Het
Kif26b	T	C	1: 178,917,568	L1743P	probably damaging	Het
Lnx1	A	T	5: 74,685,646	C48S	probably damaging	Het
Lrfn2	A	G	17: 49,070,626	H245R	probably damaging	Het
Lrrc27	A	G	7: 139,218,268	E93G	probably benign	Het
Mettl6	T	C	14: 31,479,726	E253G	probably damaging	Het
Nmu	A	T	5: 76,343,971	F106Y	probably damaging	Het
Pcsk7	T	C	9: 45,909,696	I142T	probably benign	Het
Polr3a	A	T	14: 24,486,871		probably null	Het
Psmb9	G	T	17: 34,185,733	A19E	probably damaging	Het
Pus7l	A	G	15: 94,531,575	M454T	probably benign	Het
Raet1e	A	G	10: 22,180,746	T74A	probably benign	Het
Ralb	A	C	1: 119,478,109	Y43*	probably null	Het
Ralgapa1	C	A	12: 55,683,910	E1947*	probably null	Het
Robo1	T	C	16: 72,972,046	Y500H	probably benign	Het
Shroom1	A	C	11: 53,463,387	T45P	probably benign	Het
Slit2	A	G	5: 47,984,986		probably benign	Het
Srgap3	T	C	6: 112,723,006	S1004G	probably damaging	Het
Taok2	A	G	7: 126,870,992	V888A	probably benign	Het
Tbc1d8	T	A	1: 39,402,899	D204V	probably damaging	Het
Trav7d-4	C	A	14: 52,770,167	A39D	probably damaging	Het
Ush2a	G	T	1: 188,267,032	E180*	probably null	Het
Vmn1r37	A	G	6: 66,731,579	D63G	probably benign	Het
Zfp282	G	A	6: 47,880,385	R184Q	probably 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
R6352:BC005561	UTSW	5	104520198	missense	probably benign	0.11
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'- ACAATGGTTGTATTGCCTTCCG -3'
(R):5'- CGCACAACCTTTGCAAATAAGATG -3'

Sequencing Primer
(F):5'- AAAGTGATGAACGAGAAAAAGAAAAG -3'
(R):5'- CAACCTTTGCAAATAAGATGGGATC -3'

Posted On

2018-05-04