Mutagenetix > Incidental Mutations

Incidental Mutation 'R0842:BC005561'

77203

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

039021-MU

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104519200 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 529 (N529K)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096452
AA Change: N529K

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: N529K

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: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl8	C	A	9: 21,835,676	Y53*	probably null	Het
Apbb1ip	G	A	2: 22,867,666	R432Q	possibly damaging	Het
Catsperb	A	T	12: 101,463,048	Q160L	probably damaging	Het
Cilp2	T	C	8: 69,883,118	Y410C	probably damaging	Het
Cntnap5a	G	A	1: 116,442,223	G857S	probably damaging	Het
Colca2	T	C	9: 51,272,368	E102G	probably benign	Het
D630045J12Rik	A	T	6: 38,148,465	V1538E	probably damaging	Het
Dnah7a	A	G	1: 53,501,674	S2514P	possibly damaging	Het
Eme1	C	T	11: 94,650,874	A41T	probably benign	Het
F11	T	C	8: 45,252,159	Y115C	probably damaging	Het
Fam155a	T	A	8: 9,770,114	D302V	probably benign	Het
Fap	A	T	2: 62,537,001	W313R	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Ggt6	T	A	11: 72,437,262	L158*	probably null	Het
Gm281	G	A	14: 13,856,686	S475L	probably benign	Het
Herc2	A	C	7: 56,121,705	I1072L	probably benign	Het
Hhat	T	C	1: 192,726,331	N164S	probably benign	Het
Klrb1	A	G	6: 128,710,045		probably null	Het
L3mbtl4	T	A	17: 68,486,962	D320E	probably benign	Het
Lyst	C	A	13: 13,678,241	Y2275*	probably null	Het
Map4k3	T	C	17: 80,605,983	N611S	probably benign	Het
Morc3	T	C	16: 93,873,396		probably null	Het
Mtr	A	C	13: 12,200,247	Y864D	probably damaging	Het
Myh2	C	T	11: 67,179,524	A431V	possibly damaging	Het
Myo9a	C	A	9: 59,871,067	Q1369K	probably benign	Het
Nat3	T	C	8: 67,547,997	I176T	probably benign	Het
Ncapd3	C	T	9: 27,037,084	T54I	probably benign	Het
Nfyc	C	A	4: 120,759,377	E281D	probably benign	Het
Nlrp14	A	G	7: 107,183,135	D513G	probably benign	Het
Pacsin2	T	C	15: 83,379,181	E83G	probably damaging	Het
Plagl1	G	T	10: 13,128,554		probably benign	Het
Pmpcb	T	C	5: 21,748,774	L340P	possibly damaging	Het
Pou2f2	A	T	7: 25,096,930	L364Q	probably damaging	Het
Rab1b	A	T	19: 5,104,669	I84N	probably damaging	Het
Ric3	T	C	7: 109,038,880	Y222C	probably damaging	Het
Samhd1	A	G	2: 157,123,331	V188A	probably damaging	Het
Socs4	T	A	14: 47,289,969	H107Q	probably damaging	Het
Tex15	T	A	8: 33,571,547	I335K	possibly damaging	Het
Thop1	C	A	10: 81,075,577	T99K	probably damaging	Het
Tnik	A	G	3: 28,594,086	E429G	possibly damaging	Het
Vmn2r106	T	A	17: 20,268,203	I645F	probably damaging	Het
Zscan29	T	A	2: 121,161,479	R609S	possibly 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
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
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
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'- TGCCAAAGGCTCACCTGTCAATG -3'
(R):5'- GAAACTAGCCAGACTCTGAAGCCAG -3'

Sequencing Primer
(F):5'- CGCATAGGCAAGTCATTTATGAAG -3'
(R):5'- TTTCAATGAGTCTACCACAGGGG -3'

Posted On

2013-10-16