Mutagenetix > Incidental Mutation

Incidental Mutation 'R8858:BC034090'

675451

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

068738-MU

Accession Numbers

Essential gene?

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

Stock #

R8858 (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 155101964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 100 (V100A)

Ref Sequence

ENSEMBL: ENSMUSP00000037456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]

AlphaFold

A0A087WP46

Predicted Effect

probably benign
Transcript: ENSMUST00000035914
AA Change: V100A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: V100A

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:DUF4685	44	168	6.6e-57	PFAM
low complexity region	486	500	N/A	INTRINSIC
low complexity region	562	568	N/A	INTRINSIC
low complexity region	640	652	N/A	INTRINSIC
PDZ	830	905	4.8e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186156
AA Change: V462A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: V462A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187096
AA Change: V100A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: V100A

Domain	Start	End	E-Value	Type
low complexity region	84	101	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,638,338 (GRCm39)	Q91R	probably benign	Het
Abca16	G	T	7: 120,052,327 (GRCm39)	C465F	probably benign	Het
Amfr	A	G	8: 94,714,070 (GRCm39)	Y254H	probably damaging	Het
Arl6ip6	A	G	2: 53,093,018 (GRCm39)	E181G	probably damaging	Het
Atp10a	A	G	7: 58,465,971 (GRCm39)	E1066G	probably damaging	Het
Cep126	T	C	9: 8,130,270 (GRCm39)	M54V	probably benign	Het
Ciao2a	T	C	9: 66,039,824 (GRCm39)	I47T	probably damaging	Het
Csmd1	A	G	8: 16,120,318 (GRCm39)	V1829A	probably benign	Het
Cyp2c54	G	A	19: 40,062,227 (GRCm39)	T10I	probably benign	Het
Dennd11	T	C	6: 40,399,669 (GRCm39)	N173S	probably benign	Het
Disc1	A	G	8: 125,977,781 (GRCm39)	Y799C	probably damaging	Het
Dnajc17	T	C	2: 119,011,445 (GRCm39)	T162A	probably benign	Het
Fhad1	T	C	4: 141,666,339 (GRCm39)	E695G	possibly damaging	Het
Gadl1	A	T	9: 115,835,669 (GRCm39)	S366C	probably damaging	Het
Gbp11	C	A	5: 105,473,392 (GRCm39)	E454*	probably null	Het
Gm32742	T	A	9: 51,062,256 (GRCm39)	T691S	probably benign	Het
Gsdma3	C	A	11: 98,520,695 (GRCm39)	Q109K	probably benign	Het
Hsph1	A	T	5: 149,548,576 (GRCm39)	V482E	probably damaging	Het
Ighv1-23	T	A	12: 114,728,083 (GRCm39)	Y113F	probably benign	Het
Lactb	G	T	9: 66,863,182 (GRCm39)	Y477*	probably null	Het
Lgr6	T	C	1: 134,923,849 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 41,560,827 (GRCm39)		probably benign	Het
Map3k4	A	C	17: 12,490,759 (GRCm39)	L224R	probably damaging	Het
Mex3d	A	T	10: 80,217,217 (GRCm39)	C667S	unknown	Het
Myh8	A	G	11: 67,192,820 (GRCm39)	E1537G	possibly damaging	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nfic	A	T	10: 81,262,965 (GRCm39)		probably benign	Het
Nrcam	T	A	12: 44,644,554 (GRCm39)		probably benign	Het
Or2aj6	A	G	16: 19,443,109 (GRCm39)	V247A	probably damaging	Het
Or4f54	G	A	2: 111,123,503 (GRCm39)	V297M	probably benign	Het
Orc2	A	T	1: 58,532,857 (GRCm39)	D127E	probably benign	Het
Ppp2r5c	T	A	12: 110,519,329 (GRCm39)		probably null	Het
Ptpn18	A	G	1: 34,502,196 (GRCm39)	T71A	possibly damaging	Het
Ptpru	T	C	4: 131,526,825 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,102,285 (GRCm39)		probably null	Het
Rnase9	G	A	14: 51,276,766 (GRCm39)	P71S		Het
Ryr1	A	G	7: 28,808,638 (GRCm39)	L485P	probably benign	Het
Sardh	T	C	2: 27,118,302 (GRCm39)	D476G	probably null	Het
Sorbs3	T	C	14: 70,438,850 (GRCm39)	Y170C	probably damaging	Het
Spata31e4	T	C	13: 50,855,423 (GRCm39)	S354P	probably benign	Het
St8sia5	C	T	18: 77,320,511 (GRCm39)	P88S	probably benign	Het
Tmprss15	A	G	16: 78,854,497 (GRCm39)		probably null	Het
Tnfrsf13b	A	G	11: 61,038,363 (GRCm39)	I215M	possibly damaging	Het
Unc13d	G	T	11: 115,953,618 (GRCm39)	L1052M	probably damaging	Het
Vasn	A	G	16: 4,466,833 (GRCm39)	D260G	probably benign	Het
Wdr77	T	C	3: 105,868,978 (GRCm39)	V116A	probably damaging	Het
Zfp560	A	G	9: 20,260,403 (GRCm39)	I153T	probably benign	Het
Zfp672	G	A	11: 58,208,145 (GRCm39)	R59C	possibly 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
R6060:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
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
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'- ACCATGGGAATTACAGGGCC -3'
(R):5'- AGAATGGGAACTTGAATGACCC -3'

Sequencing Primer
(F):5'- ACTCTCAGGTCAGAGGCTG -3'
(R):5'- GGGAACTTGAATGACCCCTCCAG -3'

Posted On

2021-07-15