Mutagenetix > Incidental Mutation

Incidental Mutation 'R6060:BC034090'

483163

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

044426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155117245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 291 (I291T)

Ref Sequence

ENSEMBL: ENSMUSP00000139623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186156]

AlphaFold

A0A087WP46

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186082

Predicted Effect

probably benign
Transcript: ENSMUST00000186156
AA Change: I291T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: I291T

Domain	Start	End	E-Value	Type
low complexity region	446	463	N/A	INTRINSIC
low complexity region	779	793	N/A	INTRINSIC
low complexity region	855	861	N/A	INTRINSIC
low complexity region	933	945	N/A	INTRINSIC
PDZ	1123	1198	2.2e-5	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	G	16: 88,966,630 (GRCm39)		probably null	Het
Adh1	T	C	3: 137,992,544 (GRCm39)	I220T	probably damaging	Het
Ajap1	G	A	4: 153,516,699 (GRCm39)	T214I	probably damaging	Het
Ank2	A	G	3: 126,749,601 (GRCm39)	F476S	probably damaging	Het
Atp6v1g3	A	G	1: 138,201,582 (GRCm39)	K27E	possibly damaging	Het
Cnot9	T	A	1: 74,556,285 (GRCm39)	N27K	probably benign	Het
Cyp2c70	A	T	19: 40,153,857 (GRCm39)	L244*	probably null	Het
Cyp2d22	T	C	15: 82,260,086 (GRCm39)	T6A	probably benign	Het
D630045J12Rik	T	C	6: 38,107,799 (GRCm39)	E1829G	probably damaging	Het
Dnajc4	G	T	19: 6,968,093 (GRCm39)	S61*	probably null	Het
Dpysl4	A	G	7: 138,669,324 (GRCm39)	M1V	probably null	Het
Fam149a	T	A	8: 45,811,799 (GRCm39)		probably benign	Het
Fam184b	T	C	5: 45,710,489 (GRCm39)	E547G	probably damaging	Het
Fam47e	T	A	5: 92,727,472 (GRCm39)	F127I	possibly damaging	Het
Ifi207	G	A	1: 173,558,093 (GRCm39)	T215I	unknown	Het
Iftap	T	C	2: 101,440,950 (GRCm39)	K18E	probably benign	Het
Lpxn	T	C	19: 12,810,489 (GRCm39)	L311P	probably damaging	Het
Lrp1b	A	T	2: 40,640,946 (GRCm39)	N3499K		Het
Mknk2	A	T	10: 80,507,468 (GRCm39)	D76E	probably benign	Het
Nectin2	A	T	7: 19,451,700 (GRCm39)	Y445N	probably damaging	Het
Ngb	A	C	12: 87,146,963 (GRCm39)	S85A	probably benign	Het
Nrp1	C	A	8: 129,224,419 (GRCm39)	H727Q	probably damaging	Het
Or5b112	C	T	19: 13,319,497 (GRCm39)	A125V	probably benign	Het
Or6k2	C	A	1: 173,986,907 (GRCm39)	C189*	probably null	Het
Pold3	A	C	7: 99,749,819 (GRCm39)	Y115*	probably null	Het
Ppp1r12b	C	G	1: 134,883,262 (GRCm39)	V87L	probably benign	Het
Ppp1r26	A	G	2: 28,341,042 (GRCm39)	N224S	probably benign	Het
Prl7a1	G	A	13: 27,821,571 (GRCm39)	P122S	probably damaging	Het
Rc3h2	T	C	2: 37,289,612 (GRCm39)	H400R	possibly damaging	Het
Rnf32	A	T	5: 29,411,752 (GRCm39)	I214L	probably benign	Het
Safb2	A	T	17: 56,870,246 (GRCm39)		probably null	Het
Serpinb6e	A	G	13: 34,025,256 (GRCm39)	C12R	possibly damaging	Het
Sh2b2	A	T	5: 136,261,209 (GRCm39)	N2K	possibly damaging	Het
Slc12a4	G	A	8: 106,672,338 (GRCm39)	A821V	probably damaging	Het
Slc41a1	A	G	1: 131,767,972 (GRCm39)	M179V	probably benign	Het
Slc9a3	A	G	13: 74,299,004 (GRCm39)	Y141C	probably damaging	Het
Tenm4	G	A	7: 96,522,918 (GRCm39)	V1450I	probably damaging	Het
Trmt1l	A	G	1: 151,333,331 (GRCm39)	N642S	possibly damaging	Het
Ttll13	G	A	7: 79,908,491 (GRCm39)	R576H	probably damaging	Het
Zar1	T	A	5: 72,738,272 (GRCm39)	R43S	probably benign	Het
Zfp455	A	G	13: 67,355,257 (GRCm39)	Y175C	probably damaging	Het

Other mutations in BC034090

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:BC034090	APN	1	155,101,193 (GRCm39)	missense	possibly damaging	0.95
IGL00159:BC034090	APN	1	155,101,197 (GRCm39)	nonsense	probably null
IGL00481:BC034090	APN	1	155,108,267 (GRCm39)	missense	probably benign	0.04
IGL01309:BC034090	APN	1	155,102,130 (GRCm39)	missense	probably damaging	0.98
IGL01813:BC034090	APN	1	155,102,085 (GRCm39)	nonsense	probably null
IGL01938:BC034090	APN	1	155,108,338 (GRCm39)	splice site	probably null
IGL01982:BC034090	APN	1	155,099,078 (GRCm39)	missense	probably damaging	1.00
IGL02115:BC034090	APN	1	155,108,397 (GRCm39)	intron	probably benign
IGL02338:BC034090	APN	1	155,093,217 (GRCm39)	missense	probably damaging	1.00
IGL02406:BC034090	APN	1	155,100,899 (GRCm39)	missense	probably benign	0.00
IGL03243:BC034090	APN	1	155,101,401 (GRCm39)	missense	possibly damaging	0.71
IGL03290:BC034090	APN	1	155,101,856 (GRCm39)	missense	probably damaging	1.00
BB004:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
BB014:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
R0055:BC034090	UTSW	1	155,117,404 (GRCm39)	missense	probably damaging	1.00
R1436:BC034090	UTSW	1	155,101,662 (GRCm39)	missense	probably benign	0.04
R1649:BC034090	UTSW	1	155,101,319 (GRCm39)	missense	possibly damaging	0.72
R1710:BC034090	UTSW	1	155,101,610 (GRCm39)	missense	possibly damaging	0.82
R1819:BC034090	UTSW	1	155,101,575 (GRCm39)	missense	possibly damaging	0.58
R1969:BC034090	UTSW	1	155,100,972 (GRCm39)	missense	possibly damaging	0.90
R1996:BC034090	UTSW	1	155,097,340 (GRCm39)	unclassified	probably benign
R2012:BC034090	UTSW	1	155,097,178 (GRCm39)	missense	probably damaging	0.98
R2133:BC034090	UTSW	1	155,101,532 (GRCm39)	missense	probably benign	0.27
R3426:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3427:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3428:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3782:BC034090	UTSW	1	155,102,024 (GRCm39)	missense	probably damaging	1.00
R3792:BC034090	UTSW	1	155,117,543 (GRCm39)	missense	probably damaging	0.98
R4234:BC034090	UTSW	1	155,117,326 (GRCm39)	missense	probably benign
R4373:BC034090	UTSW	1	155,101,904 (GRCm39)	missense	probably benign	0.22
R4377:BC034090	UTSW	1	155,108,196 (GRCm39)	missense	probably benign	0.00
R4661:BC034090	UTSW	1	155,108,221 (GRCm39)	missense	probably damaging	0.98
R4676:BC034090	UTSW	1	155,102,010 (GRCm39)	missense	possibly damaging	0.60
R4729:BC034090	UTSW	1	155,100,836 (GRCm39)	missense	probably damaging	1.00
R5170:BC034090	UTSW	1	155,089,396 (GRCm39)	missense	probably damaging	1.00
R5340:BC034090	UTSW	1	155,102,160 (GRCm39)	missense	possibly damaging	0.74
R5382:BC034090	UTSW	1	155,101,349 (GRCm39)	missense	probably benign	0.09
R5384:BC034090	UTSW	1	155,117,773 (GRCm39)	missense	possibly damaging	0.68
R5576:BC034090	UTSW	1	155,117,214 (GRCm39)	missense	probably benign	0.01
R5891:BC034090	UTSW	1	155,108,793 (GRCm39)	unclassified	probably benign
R6092:BC034090	UTSW	1	155,100,659 (GRCm39)	missense	probably damaging	0.99
R6662:BC034090	UTSW	1	155,102,085 (GRCm39)	missense	possibly damaging	0.92
R6736:BC034090	UTSW	1	155,117,676 (GRCm39)	missense	possibly damaging	0.92
R6903:BC034090	UTSW	1	155,097,131 (GRCm39)	missense	probably benign	0.03
R6970:BC034090	UTSW	1	155,117,185 (GRCm39)	missense	probably damaging	1.00
R7144:BC034090	UTSW	1	155,117,777 (GRCm39)	missense	probably damaging	1.00
R7201:BC034090	UTSW	1	155,117,680 (GRCm39)	missense	probably damaging	0.98
R7265:BC034090	UTSW	1	155,101,073 (GRCm39)	missense	probably damaging	0.96
R7380:BC034090	UTSW	1	155,108,229 (GRCm39)	missense	probably damaging	1.00
R7436:BC034090	UTSW	1	155,102,127 (GRCm39)	missense	probably damaging	1.00
R7569:BC034090	UTSW	1	155,093,151 (GRCm39)	missense	probably benign	0.00
R7587:BC034090	UTSW	1	155,093,232 (GRCm39)	missense	probably damaging	1.00
R7664:BC034090	UTSW	1	155,117,377 (GRCm39)	missense	probably damaging	1.00
R7737:BC034090	UTSW	1	155,117,419 (GRCm39)	missense	possibly damaging	0.66
R7782:BC034090	UTSW	1	155,108,410 (GRCm39)	intron	probably benign
R7927:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
R8079:BC034090	UTSW	1	155,101,032 (GRCm39)	missense	probably damaging	1.00
R8204:BC034090	UTSW	1	155,117,488 (GRCm39)	missense	probably damaging	1.00
R8558:BC034090	UTSW	1	155,097,085 (GRCm39)	missense	possibly damaging	0.95
R8832:BC034090	UTSW	1	155,102,034 (GRCm39)	missense	probably damaging	1.00
R8858:BC034090	UTSW	1	155,101,964 (GRCm39)	missense	probably benign	0.17
R8879:BC034090	UTSW	1	155,102,103 (GRCm39)	missense	probably benign
R9004:BC034090	UTSW	1	155,102,138 (GRCm39)	missense	possibly damaging	0.87
R9036:BC034090	UTSW	1	155,117,419 (GRCm39)	missense	possibly damaging	0.66
R9141:BC034090	UTSW	1	155,108,474 (GRCm39)	intron	probably benign
R9293:BC034090	UTSW	1	155,101,518 (GRCm39)	missense	probably benign	0.29
R9348:BC034090	UTSW	1	155,099,049 (GRCm39)	missense	probably benign	0.00
R9440:BC034090	UTSW	1	155,101,961 (GRCm39)	missense	probably benign	0.06
R9477:BC034090	UTSW	1	155,102,087 (GRCm39)	missense	probably damaging	1.00
R9608:BC034090	UTSW	1	155,099,135 (GRCm39)	missense	possibly damaging	0.79
R9700:BC034090	UTSW	1	155,101,982 (GRCm39)	missense	probably damaging	1.00
R9787:BC034090	UTSW	1	155,117,955 (GRCm39)	missense	possibly damaging	0.95
X0002:BC034090	UTSW	1	155,102,025 (GRCm39)	nonsense	probably null
Z1187:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1189:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1190:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1192:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCCAGACAGTGATTGGGTG -3'
(R):5'- CCTTGAGCAGCCAGAAGAAG -3'

Sequencing Primer
(F):5'- GGGTGACATTATTGTGCCATCTTTCC -3'
(R):5'- GACAATACCCGCTCGGAGATG -3'

Posted On

2017-07-14