Mutagenetix > Incidental Mutation

Incidental Mutation 'R9141:BC034090'

694325

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

068933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 155108474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140632 (fasta)

Gene Model

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

AlphaFold

A0A087WP46

Predicted Effect

probably benign
Transcript: ENSMUST00000035914

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722

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

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722

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

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,851,264 (GRCm39)	D2159G	possibly damaging	Het
Adamts8	A	G	9: 30,864,721 (GRCm39)	Y404C	possibly damaging	Het
Arhgef16	A	C	4: 154,366,300 (GRCm39)	L489R	probably damaging	Het
Cdc25b	T	C	2: 131,033,857 (GRCm39)		probably null	Het
Cert1	T	A	13: 96,753,568 (GRCm39)	F393I	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cttnbp2	A	T	6: 18,429,138 (GRCm39)	C163*	probably null	Het
Dclre1a	A	T	19: 56,533,542 (GRCm39)	F351I	probably damaging	Het
Ddx46	T	A	13: 55,823,892 (GRCm39)	Y933N	probably damaging	Het
Dnai4	A	T	4: 102,906,743 (GRCm39)	I690N	probably damaging	Het
Eif2b3	C	A	4: 116,923,578 (GRCm39)	Y264*	probably null	Het
Esco1	T	C	18: 10,594,731 (GRCm39)	K185R	possibly damaging	Het
F11	A	G	8: 45,703,092 (GRCm39)		probably null	Het
Fmo2	T	C	1: 162,709,623 (GRCm39)	M255V	probably null	Het
Hdac7	T	C	15: 97,697,649 (GRCm39)	T677A	probably benign	Het
Iqcn	C	T	8: 71,162,421 (GRCm39)	T538M	probably benign	Het
Krt84	C	A	15: 101,440,974 (GRCm39)	V73F	probably benign	Het
Lamc1	A	G	1: 153,123,196 (GRCm39)	Y665H	probably benign	Het
Lrrc27	A	G	7: 138,807,861 (GRCm39)	I323V	probably benign	Het
Ltbp1	C	T	17: 75,598,309 (GRCm39)	R597W	possibly damaging	Het
Nfib	T	G	4: 82,416,529 (GRCm39)	T170P	probably damaging	Het
Nufip1	A	T	14: 76,370,413 (GRCm39)	E371D	possibly damaging	Het
Optn	T	A	2: 5,059,485 (GRCm39)	E11V	possibly damaging	Het
Or4d2b	A	T	11: 87,780,056 (GRCm39)	L222Q	probably damaging	Het
Pdha2	T	C	3: 140,917,211 (GRCm39)	E99G	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prox1	T	C	1: 189,892,511 (GRCm39)		probably null	Het
Ptbp1	T	A	10: 79,694,897 (GRCm39)	I75N	probably damaging	Het
R3hdm1	T	C	1: 128,164,212 (GRCm39)	L1042P	probably damaging	Het
Ralgapb	A	T	2: 158,262,811 (GRCm39)	Q16H	possibly damaging	Het
Scmh1	T	C	4: 120,362,556 (GRCm39)	V264A	probably benign	Het
Sec23a	A	G	12: 59,053,890 (GRCm39)	V36A	probably benign	Het
Serpina3a	A	G	12: 104,087,649 (GRCm39)	N191D	probably benign	Het
Slc10a7	T	A	8: 79,236,241 (GRCm39)	M13K	probably benign	Het
Slco2a1	G	T	9: 102,945,254 (GRCm39)		probably benign	Het
Smchd1	C	T	17: 71,672,125 (GRCm39)	S1643N	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,126,610 (GRCm39)	K2133N	probably damaging	Het
St6galnac6	T	C	2: 32,505,094 (GRCm39)	I202T	probably damaging	Het
Stab2	T	C	10: 86,704,911 (GRCm39)	K1819R	probably damaging	Het
Strn3	T	C	12: 51,694,873 (GRCm39)	T297A	probably damaging	Het
Sult1b1	T	A	5: 87,665,280 (GRCm39)	E218V	probably damaging	Het
Urb2	T	G	8: 124,755,285 (GRCm39)	L331V	probably damaging	Het
Vmn1r86	A	T	7: 12,836,789 (GRCm39)	L29*	probably null	Het
Vmn2r52	G	T	7: 9,905,331 (GRCm39)	Y169*	probably null	Het
Zfp592	A	T	7: 80,674,205 (GRCm39)	T390S	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
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
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
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'- TCAGTGTAGGCTCCAGCTTG -3'
(R):5'- CAGATGCATCACCTCAGGAC -3'

Sequencing Primer
(F):5'- TGTAGGCTCCAGCTTGGGAAC -3'
(R):5'- GATGCATCACCTCAGGACCTTCTC -3'

Posted On

2022-01-20