Mutagenetix > Incidental Mutations

Incidental Mutation 'R1371:BC061237'

157338

Institutional Source

Beutler Lab

Gene Symbol

BC061237

Ensembl Gene

ENSMUSG00000072145

Gene Name

cDNA sequence BC061237

Synonyms

MMRRC Submission

039435-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1371 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

44492463-44506345 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 44504305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096899]

AlphaFold

Q6P8I2

Predicted Effect

probably benign
Transcript: ENSMUST00000096899

SMART Domains

Protein: ENSMUSP00000094662
Gene: ENSMUSG00000072145

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	88	1.6e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227180

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,953,553	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,899,616	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,392,459	T208I	probably benign	Het
Aldh16a1	G	T	7: 45,147,250	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Asgr1	T	G	11: 70,056,097	C56W	probably benign	Het
Atp11b	T	C	3: 35,806,769	I335T	probably damaging	Het
Bdh1	G	T	16: 31,456,902	K280N	probably benign	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,280,603	E285G	probably benign	Het
Ces1f	C	T	8: 93,279,649	G18R	probably damaging	Het
Cfap43	T	A	19: 47,835,606	I109L	possibly damaging	Het
Cma2	T	C	14: 55,972,826	L56S	probably damaging	Het
Edc4	A	G	8: 105,890,750		probably benign	Het
F3	T	C	3: 121,732,510	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,445,003	S972C	probably damaging	Het
H2afy2	A	T	10: 61,749,333	D177E	possibly damaging	Het
Heatr1	T	G	13: 12,417,632	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,196,894		probably benign	Het
Ice1	T	C	13: 70,596,221	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,442,713	N194D	probably damaging	Het
Ip6k1	G	A	9: 108,045,823	V385M	probably damaging	Het
Lig1	G	A	7: 13,288,685	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,647,153	V41I	probably damaging	Het
Mst1r	T	A	9: 107,917,225	V1201E	probably damaging	Het
Myof	T	C	19: 37,903,668		probably benign	Het
Nbas	G	T	12: 13,482,378		probably benign	Het
Ndst1	A	G	18: 60,707,647	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983	G343R	probably damaging	Het
Olfr13	A	T	6: 43,174,300	T105S	probably benign	Het
Olfr1385	T	A	11: 49,494,823	C97S	probably damaging	Het
Olfr462	A	T	11: 87,889,296	I200N	probably damaging	Het
Pde4d	T	C	13: 109,117,061	S141P	probably benign	Het
Pigm	A	T	1: 172,376,814	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,662,767	I88F	probably benign	Het
Prss16	T	A	13: 22,008,686		probably benign	Het
Psmc4	G	A	7: 28,042,797		probably benign	Het
Ptger3	T	A	3: 157,567,728	C237*	probably null	Het
Recql	G	A	6: 142,372,875	T214M	probably damaging	Het
Rfx7	T	A	9: 72,619,575	V1349D	probably damaging	Het
Ros1	A	G	10: 52,087,945	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,946,809	S83T	probably benign	Het
Sall4	A	G	2: 168,756,474	Y149H	probably benign	Het
Smad1	A	G	8: 79,349,578		probably benign	Het
Snrnp70	T	C	7: 45,380,705		probably benign	Het
Spef2	C	A	15: 9,725,108		probably benign	Het
Sptlc1	T	C	13: 53,351,624	T253A	probably benign	Het
Zbbx	T	C	3: 75,052,477	Y595C	possibly damaging	Het
Zfp382	T	C	7: 30,133,689	V255A	probably benign	Het

Other mutations in BC061237

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01910:BC061237	APN	14	44505988	splice site	probably benign
IGL02931:BC061237	APN	14	44503322	missense	possibly damaging	0.95
R1927:BC061237	UTSW	14	44501243	missense	possibly damaging	0.84
R2884:BC061237	UTSW	14	44501170	missense	possibly damaging	0.93
R3892:BC061237	UTSW	14	44501273	missense	probably benign
R4749:BC061237	UTSW	14	44506012	missense	probably damaging	0.98
R4884:BC061237	UTSW	14	44501209	missense	possibly damaging	0.95
R5866:BC061237	UTSW	14	44501273	missense	possibly damaging	0.56
R6381:BC061237	UTSW	14	44504256	missense	possibly damaging	0.72
R6445:BC061237	UTSW	14	44501274	missense	probably benign	0.13
R6714:BC061237	UTSW	14	44504182	missense	possibly damaging	0.93
R8886:BC061237	UTSW	14	44504234	missense	probably benign	0.00
R8943:BC061237	UTSW	14	44504201	missense	probably benign	0.01
R9124:BC061237	UTSW	14	44503394	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGATGGATACTGCCTGGAGTCACC -3'
(R):5'- CCGCTCTGCCTTATAGTGGACAAC -3'

Sequencing Primer
(F):5'- GCCACCTCCTGATTGAATCTAAG -3'
(R):5'- agagggggaggaggagg -3'

Posted On

2014-02-18