Mutagenetix > Incidental Mutations

Incidental Mutation 'R6789:BC005561'

532929

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: 0.945) question?

Stock #

R6789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104517689 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 26 (F26L)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: F26L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F26L

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: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox2	T	A	1: 58,304,485	D442E	probably benign	Het
Arl6ip4	G	A	5: 124,116,602	G53R	probably damaging	Het
Asns	T	C	6: 7,675,344	T553A	probably benign	Het
Atp1a1	T	A	3: 101,586,298	N497Y	possibly damaging	Het
Birc2	T	C	9: 7,836,965		probably benign	Het
Catsperd	C	A	17: 56,654,426		probably null	Het
Dchs1	G	T	7: 105,757,003	Q2341K	possibly damaging	Het
Dydc2	C	A	14: 41,049,339	V128L	probably benign	Het
Efna3	C	T	3: 89,316,462		probably null	Het
Fam160a1	A	T	3: 85,672,558	L780*	probably null	Het
Fbn2	C	T	18: 58,010,614	E2790K	probably benign	Het
Gm11569	C	A	11: 99,798,831		probably benign	Het
Gprc6a	C	T	10: 51,631,316	G39D	probably damaging	Het
Igkv6-17	A	G	6: 70,371,708	D21G	probably benign	Het
Klra4	T	C	6: 130,062,219	Q70R	probably damaging	Het
Krtap31-2	C	T	11: 99,936,723	S127F	possibly damaging	Het
Lingo4	G	T	3: 94,399,355		probably benign	Het
Lrp2bp	A	G	8: 46,013,114	K87E	possibly damaging	Het
Macf1	A	T	4: 123,372,438	M5333K	probably damaging	Het
Mmp13	A	T	9: 7,272,781	Y47F	probably benign	Het
Muc16	G	A	9: 18,559,986	P7261S	probably benign	Het
Nostrin	G	T	2: 69,175,512	M212I	probably benign	Het
Nr1h5	G	A	3: 102,958,361	T8M	possibly damaging	Het
Nup153	A	T	13: 46,717,316	L41H	probably damaging	Het
Olfr1358	T	C	10: 78,519,968	L120P	noncoding transcript	Het
Olfr1447	T	A	19: 12,901,289	I164L	probably benign	Het
Pappa	A	T	4: 65,181,041	D599V	probably damaging	Het
Pcdh18	G	A	3: 49,755,915	T317I	probably benign	Het
Pcsk5	T	A	19: 17,456,786	N1406I	possibly damaging	Het
Pik3c2a	A	T	7: 116,362,184	Y1027N	probably damaging	Het
Prpf6	T	A	2: 181,616,051	Y105*	probably null	Het
Rab5a	C	T	17: 53,497,622	P87S	probably damaging	Het
Rnf8	T	A	17: 29,635,869	W433R	probably damaging	Het
Slc18b1	T	A	10: 23,816,329	V232D	probably benign	Het
Taf11	C	A	17: 27,907,518	A52S	probably benign	Het
Trav9-2	T	C	14: 53,591,362	L63P	possibly damaging	Het
Wdr34	A	G	2: 30,033,272		probably null	Het
Zfat	T	C	15: 68,084,386	Y1199C	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
Magnetar	UTSW	5	104520279	missense	probably damaging	0.99
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
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
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
R7884:BC005561	UTSW	5	104521346	missense	possibly damaging	0.52
R7945:BC005561	UTSW	5	104518547	missense	possibly damaging	0.93
R8112:BC005561	UTSW	5	104521635	missense	probably benign
R8131:BC005561	UTSW	5	104521161	missense	possibly damaging	0.95
R8418:BC005561	UTSW	5	104519858	missense	possibly damaging	0.60
Z1176:BC005561	UTSW	5	104520192	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TGAGCTGGTCTTTCCTTGAAC -3'
(R):5'- GCCCAATGACCCCAATGTTTC -3'

Sequencing Primer
(F):5'- TTCCTTGAACCTCCTGGAAGCAAG -3'
(R):5'- CAATGTTTCTGGATCCAAGCG -3'

Posted On

2018-08-29