Mutagenetix > Incidental Mutations

Incidental Mutation 'R6104:BC005561'

485420

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

044254-MU

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R6104 (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 A at 104518218 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 202 (I202K)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096452
AA Change: I202K

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

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I202K

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: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	T	A	2: 85,508,349	K149*	probably null	Het
Acot11	A	T	4: 106,755,897	L327Q	probably damaging	Het
Atrip	C	T	9: 109,065,564	A432T	possibly damaging	Het
Chd6	T	C	2: 161,014,132	T736A	probably damaging	Het
Cyp1b1	T	A	17: 79,710,205	Y507F	probably damaging	Het
Desi2	G	A	1: 178,249,452	R174H	probably benign	Het
Dopey1	A	T	9: 86,520,807	K1351N	possibly damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Fzd2	T	C	11: 102,606,335	I535T	probably damaging	Het
Gpr15	A	G	16: 58,717,976	F250S	probably damaging	Het
Grm6	T	A	11: 50,859,317	I466N	possibly damaging	Het
Il17a	A	G	1: 20,732,274	Y69C	probably damaging	Het
Itgam	A	G	7: 128,116,302	D938G	possibly damaging	Het
Kmt2c	T	C	5: 25,299,129	D316G	probably benign	Het
Lrba	C	A	3: 86,353,792	A1485E	probably damaging	Het
Marf1	G	A	16: 14,117,455	T1483I	probably damaging	Het
Myo18b	T	C	5: 112,874,291		probably benign	Het
Myo5b	T	A	18: 74,700,679	I842N	probably benign	Het
Nckap5l	C	T	15: 99,423,988	S1092N	probably benign	Het
Nelfcd	T	C	2: 174,423,457	S273P	probably damaging	Het
Nt5c1b	A	G	12: 10,372,955	N83D	probably damaging	Het
Oas3	T	A	5: 120,761,693	I709F	unknown	Het
Olfr1104	T	C	2: 87,021,713	Y277C	probably damaging	Het
Olfr59	C	A	11: 74,289,366	T240N	probably damaging	Het
Pogz	A	G	3: 94,880,031	D1310G	probably benign	Het
Ppfia1	A	G	7: 144,491,574	S949P	possibly damaging	Het
Pxylp1	A	C	9: 96,824,747	F461V	possibly damaging	Het
Rcn3	A	G	7: 45,091,523	Y54H	probably damaging	Het
Rnpepl1	A	G	1: 92,915,884	H242R	probably benign	Het
Rps6ka5	A	T	12: 100,553,148	D735E	possibly damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	G	A	13: 11,799,825	T687M	probably damaging	Het
Scn11a	A	G	9: 119,795,678	I526T	probably damaging	Het
Slc29a3	A	G	10: 60,721,002	V211A	possibly damaging	Het
Syt10	A	T	15: 89,826,864	H155Q	probably benign	Het
Taar8b	A	T	10: 24,092,237	S20T	probably damaging	Het
Tenm4	A	T	7: 96,837,289	I988F	probably damaging	Het
Tlr3	A	G	8: 45,403,093	S17P	probably benign	Het
Tmem87a	A	G	2: 120,394,424	S119P	probably benign	Het
Topaz1	A	G	9: 122,749,866	T614A	probably benign	Het
Vmn2r80	A	C	10: 79,149,020	N69H	probably benign	Het
Xylb	T	A	9: 119,364,507	*66R	probably null	Het
Ylpm1	G	A	12: 85,029,630	R1043H	probably benign	Het
Ythdf3	G	A	3: 16,205,161	V491I	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACATTGGGGTCATTGGGCC -3'
(R):5'- ATGGGGTCTCACCATTTGGC -3'

Sequencing Primer
(F):5'- GGTCATTGGGCCTTATCAAAC -3'
(R):5'- ACCATTTGGCTCCTGGTAAAAC -3'

Posted On

2017-08-16