Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:BC051142'

661916

Institutional Source

Beutler Lab

Gene Symbol

BC051142

Ensembl Gene

ENSMUSG00000057246

Gene Name

cDNA sequence BC051142

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34398820-34460734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34448808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 158 (Q158L)

Ref Sequence

ENSEMBL: ENSMUSP00000109812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078615] [ENSMUST00000097348] [ENSMUST00000114175] [ENSMUST00000139063] [ENSMUST00000223957]

AlphaFold

A2CG24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078615
AA Change: Q160L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: Q160L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	246	272	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	364	391	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097348
AA Change: Q167L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: Q167L

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	151	174	N/A	INTRINSIC
low complexity region	253	279	N/A	INTRINSIC
low complexity region	335	345	N/A	INTRINSIC
low complexity region	371	398	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114175
AA Change: Q158L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: Q158L

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	142	165	N/A	INTRINSIC
SCOP:d1i7qa_	227	277	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139063

SMART Domains

Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000223957
AA Change: Q142L

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	A	G	8: 111,042,249	D227G	possibly damaging	Het
Actl11	T	A	9: 107,928,866	D129E	probably benign	Het
Adam12	T	A	7: 133,890,200	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,757,359	V732E	probably damaging	Het
Adcy1	T	C	11: 7,161,328	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,009,648	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,795,756	E99G	possibly damaging	Het
AI314180	T	C	4: 58,834,515	S788G	probably benign	Het
Ankk1	T	A	9: 49,417,992	M93L		Het
Ankmy1	A	T	1: 92,885,250	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,057,791	Y309F	probably damaging	Het
Arg2	C	T	12: 79,150,020	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,048,991	*834L	probably null	Het
Avl9	T	A	6: 56,753,393	S574T	probably benign	Het
AW551984	G	A	9: 39,599,709	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,531	L283F	probably damaging	Het
Birc6	G	A	17: 74,609,119	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,586,168	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,492,148	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cntn2	A	T	1: 132,522,993	L548Q	probably damaging	Het
Copg1	A	G	6: 87,892,655	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,121,568	N185Y	probably benign	Het
Dapk3	T	C	10: 81,190,235	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,803,982	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,523,203	R143*	probably null	Het
Dnah5	A	T	15: 28,289,221	E1185D	probably benign	Het
Dopey2	C	T	16: 93,771,811	T1587I	probably damaging	Het
Dopey2	A	G	16: 93,773,921	T1603A	probably benign	Het
Dym	T	A	18: 75,230,018	V531E	probably damaging	Het
Eif2b4	A	T	5: 31,187,930	F453L	probably damaging	Het
Entpd8	G	A	2: 25,084,980	G441D	probably damaging	Het
Fam71d	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,715,283		probably benign	Het
Galnt6	A	T	15: 100,694,722	Y535N	probably damaging	Het
Gm10340	T	A	14: 3,134,949	D72E	possibly damaging	Het
Gm13102	T	A	4: 144,109,110	D449E	probably damaging	Het
Hdac9	T	A	12: 34,390,221	K386N	probably damaging	Het
Hgs	T	A	11: 120,475,218	C212*	probably null	Het
Hoxa2	C	A	6: 52,164,560	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,499,444	W278R	probably damaging	Het
Irf7	C	T	7: 141,263,509	G389R	probably null	Het
Lipo1	G	A	19: 33,782,204	L211F	probably benign	Het
Mars2	C	T	1: 55,238,582	T448I	probably benign	Het
Mcm4	C	A	16: 15,635,274	G184C	probably damaging	Het
Mmaa	C	T	8: 79,267,969	A403T	probably damaging	Het
Mmel1	A	G	4: 154,889,528	I342V	probably benign	Het
Myb	T	C	10: 21,150,506	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,517,569		probably null	Het
Npas2	A	G	1: 39,347,627	Q659R	probably benign	Het
Npr1	A	G	3: 90,455,190	V941A	probably benign	Het
Numa1	T	G	7: 101,977,410	M1R	probably null	Het
Obscn	T	C	11: 59,076,879	S2700G	probably benign	Het
Olfr1002	A	T	2: 85,648,066	I85N	probably benign	Het
Olfr721-ps1	T	A	14: 14,407,480	L84H	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pdpr	T	A	8: 111,123,860	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,871,805	S1630T		Het
Prdm16	A	G	4: 154,528,704	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,940,529	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,552,267	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,795,176	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,571		probably benign	Het
Smc3	T	A	19: 53,641,185	S994T	possibly damaging	Het
Sparc	A	G	11: 55,401,957	C147R	probably damaging	Het
Supt6	A	T	11: 78,217,901	D1191E	probably benign	Het
Susd4	T	C	1: 182,892,267		probably null	Het
Tbc1d5	A	G	17: 50,984,603		probably null	Het
Tecta	T	G	9: 42,366,972	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,902,857	W2538L	probably damaging	Het
Trappc9	A	G	15: 73,012,815	F439L	probably benign	Het
Vegfa	A	T	17: 46,031,470	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,849,007	D132V	probably benign	Het
Wdr60	G	T	12: 116,229,642	D563E	probably benign	Het

Other mutations in BC051142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:BC051142	APN	17	34420420	unclassified	probably benign
IGL01516:BC051142	APN	17	34449260	missense	possibly damaging	0.90
FR4304:BC051142	UTSW	17	34460055	unclassified	probably benign
FR4304:BC051142	UTSW	17	34460077	unclassified	probably benign
FR4340:BC051142	UTSW	17	34460060	nonsense	probably null
FR4340:BC051142	UTSW	17	34460068	unclassified	probably benign
FR4340:BC051142	UTSW	17	34460077	unclassified	probably benign
FR4548:BC051142	UTSW	17	34460065	unclassified	probably benign
FR4589:BC051142	UTSW	17	34460053	unclassified	probably benign
FR4589:BC051142	UTSW	17	34460073	unclassified	probably benign
FR4737:BC051142	UTSW	17	34460051	unclassified	probably benign
FR4737:BC051142	UTSW	17	34460068	unclassified	probably benign
FR4976:BC051142	UTSW	17	34460058	unclassified	probably benign
FR4976:BC051142	UTSW	17	34460061	unclassified	probably benign
R0046:BC051142	UTSW	17	34460121	critical splice donor site	probably null
R0046:BC051142	UTSW	17	34460121	critical splice donor site	probably null
R0523:BC051142	UTSW	17	34445499	critical splice donor site	probably null
R0661:BC051142	UTSW	17	34459913	missense	possibly damaging	0.90
R2224:BC051142	UTSW	17	34448763	splice site	probably null
R2937:BC051142	UTSW	17	34421862	missense	possibly damaging	0.92
R3932:BC051142	UTSW	17	34443443	missense	possibly damaging	0.94
R4210:BC051142	UTSW	17	34460283	unclassified	probably benign
R4924:BC051142	UTSW	17	34459977	missense	probably damaging	0.96
R5055:BC051142	UTSW	17	34448796	missense	possibly damaging	0.83
R5446:BC051142	UTSW	17	34440893	splice site	probably null
R6147:BC051142	UTSW	17	34418923	missense	possibly damaging	0.95
R6851:BC051142	UTSW	17	34460172	missense	possibly damaging	0.66
R6866:BC051142	UTSW	17	34459961	missense	possibly damaging	0.66
R7035:BC051142	UTSW	17	34460331	unclassified	probably benign
R7077:BC051142	UTSW	17	34440882	missense	possibly damaging	0.82
R7468:BC051142	UTSW	17	34417565	splice site	probably null
R7556:BC051142	UTSW	17	34437717	missense	unknown
R7843:BC051142	UTSW	17	34449824	missense	possibly damaging	0.92
R8503:BC051142	UTSW	17	34448126	splice site	probably benign
R8529:BC051142	UTSW	17	34460169	missense	possibly damaging	0.83
R8931:BC051142	UTSW	17	34440354	splice site	probably benign
R8941:BC051142	UTSW	17	34459999	missense	possibly damaging	0.66
R9222:BC051142	UTSW	17	34429948	missense
R9560:BC051142	UTSW	17	34444042	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCCTAGCTGTGAGTTCTCC -3'
(R):5'- TGCACAGGAACAGTTAGATGAC -3'

Sequencing Primer
(F):5'- TCTACCCTGTGTGCAGACAG -3'
(R):5'- CAGGAACAGTTAGATGACACAGGC -3'

Posted On

2021-03-08