Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01723:BC067074'

105170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC067074

Ensembl Gene

ENSMUSG00000021763

Gene Name

cDNA sequence BC067074

Synonyms

Accession Numbers

Ncbi RefSeq: none; VEGA: OTTMUST00000084794; MGI:3040697

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL01723

Quality Score

Status

Chromosome

Chromosomal Location

113293159-113379711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113367557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 198 (Q198L)

Ref Sequence

ENSEMBL: ENSMUSP00000077297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]

AlphaFold

F6RXI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078163
AA Change: Q198L

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: Q198L

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	29	136	4.6e-12	PFAM
low complexity region	190	198	N/A	INTRINSIC
Pfam:Cadherin_3	231	384	4.9e-38	PFAM
transmembrane domain	725	747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135096

SMART Domains

Protein: ENSMUSP00000131959
Gene: ENSMUSG00000021763

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	1	86	1.1e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136755
AA Change: Q1740L

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: Q1740L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LamG	44	177	1.28e-20	SMART
LamG	229	371	4.66e-14	SMART
low complexity region	407	420	N/A	INTRINSIC
Pfam:Cadherin_3	492	644	2.1e-35	PFAM
Pfam:Cadherin_3	647	759	1e-7	PFAM
Pfam:Cadherin_3	741	873	1.2e-8	PFAM
Pfam:Cadherin_3	861	989	4.1e-14	PFAM
Pfam:Cadherin_3	958	1114	1.2e-20	PFAM
Pfam:Cadherin_3	1117	1223	1.6e-10	PFAM
Pfam:Cadherin_3	1212	1341	5.6e-12	PFAM
Pfam:Cadherin_3	1347	1438	3.8e-8	PFAM
Pfam:Cadherin_3	1419	1562	2.3e-45	PFAM
Pfam:Cadherin_3	1576	1679	2.1e-9	PFAM
low complexity region	1732	1740	N/A	INTRINSIC
Pfam:Cadherin_3	1773	1926	3e-35	PFAM
transmembrane domain	2267	2289	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,314,168	A705V	probably benign	Het
Abcc10	A	T	17: 46,313,745	C728S	probably damaging	Het
Alms1	G	A	6: 85,628,094	R1773Q	probably benign	Het
C030048H21Rik	A	G	2: 26,254,768	S1316P	possibly damaging	Het
Cd86	A	G	16: 36,607,124	L281S	probably benign	Het
Cdon	C	T	9: 35,503,338	P1170S	probably benign	Het
Col11a2	T	A	17: 34,061,280		probably benign	Het
Cyp2j12	A	G	4: 96,102,126	V401A	possibly damaging	Het
Cyp7a1	A	T	4: 6,272,442	I257N	probably damaging	Het
Ddhd2	A	T	8: 25,735,011	L593*	probably null	Het
Dnah8	T	C	17: 30,708,471	L1367S	probably damaging	Het
Dsg4	G	A	18: 20,466,510	V728M	probably damaging	Het
Dsp	G	A	13: 38,179,084	V447M	probably damaging	Het
Epx	C	T	11: 87,869,402	R462H	probably damaging	Het
Fgf18	T	C	11: 33,134,332	T41A	probably damaging	Het
Fh1	G	T	1: 175,601,542	A469D	probably damaging	Het
Hcn1	A	C	13: 117,976,055	S852R	probably damaging	Het
Hmcn1	A	T	1: 150,744,960	S1166R	probably benign	Het
Krt78	C	T	15: 101,951,798	G228S	possibly damaging	Het
Lrrn4	T	C	2: 132,870,061	E614G	possibly damaging	Het
Mettl9	T	C	7: 121,052,269	I180T	possibly damaging	Het
Mgat2	A	G	12: 69,185,641	T330A	probably damaging	Het
Myh13	T	C	11: 67,369,219		probably benign	Het
Nipbl	G	A	15: 8,335,071	T1283I	possibly damaging	Het
Nxpe4	A	G	9: 48,398,598	D387G	probably benign	Het
Olfr1110	A	G	2: 87,135,478	V281A	probably benign	Het
Olfr382	T	A	11: 73,516,626	D191V	probably damaging	Het
Pcdhb5	T	G	18: 37,321,022	S152A	probably benign	Het
Pcnt	C	T	10: 76,418,499	R832H	possibly damaging	Het
Ptprd	A	C	4: 76,243,673	S108R	probably damaging	Het
Ryr3	C	T	2: 112,650,111		probably null	Het
Slc22a4	C	T	11: 53,988,845	V463M	probably benign	Het
Soga1	T	C	2: 157,030,614	M938V	probably benign	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Vmn2r44	T	A	7: 8,377,916	H326L	probably damaging	Het
Vps13d	A	T	4: 145,173,145	M188K	possibly damaging	Het

Other mutations in BC067074

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03023:BC067074	APN	13	113351741	missense	probably benign	0.03
cumpleanos	UTSW	13	113368336	missense	possibly damaging	0.87
Sorpresa	UTSW	13	113318191	missense	probably damaging	1.00
P0018:BC067074	UTSW	13	113367506	missense	possibly damaging	0.60
R0003:BC067074	UTSW	13	113368776	missense	probably benign	0.00
R0016:BC067074	UTSW	13	113366105	missense	probably damaging	1.00
R0016:BC067074	UTSW	13	113366105	missense	probably damaging	1.00
R0053:BC067074	UTSW	13	113368489	missense	probably benign	0.00
R0053:BC067074	UTSW	13	113368489	missense	probably benign	0.00
R0158:BC067074	UTSW	13	113369153	nonsense	probably null
R0281:BC067074	UTSW	13	113369143	missense	probably damaging	1.00
R1212:BC067074	UTSW	13	113369417	intron	probably benign
R1300:BC067074	UTSW	13	113366160	missense	probably damaging	1.00
R1434:BC067074	UTSW	13	113368492	missense	possibly damaging	0.46
R1509:BC067074	UTSW	13	113368256	missense	probably damaging	0.99
R1738:BC067074	UTSW	13	113367500	missense	possibly damaging	0.69
R1758:BC067074	UTSW	13	113368732	missense	possibly damaging	0.78
R1828:BC067074	UTSW	13	113368808	missense	probably damaging	1.00
R2061:BC067074	UTSW	13	113318094	missense	probably damaging	0.99
R2570:BC067074	UTSW	13	113318587	missense	probably benign	0.34
R2884:BC067074	UTSW	13	113320682	missense	probably damaging	1.00
R2884:BC067074	UTSW	13	113369191	missense	probably benign	0.00
R3004:BC067074	UTSW	13	113366154	missense	probably damaging	1.00
R3150:BC067074	UTSW	13	113351760	missense	probably damaging	1.00
R3773:BC067074	UTSW	13	113318209	missense	probably benign	0.12
R3864:BC067074	UTSW	13	113322951	missense	possibly damaging	0.64
R3971:BC067074	UTSW	13	113317126	missense	probably damaging	1.00
R4004:BC067074	UTSW	13	113318380	missense	probably benign	0.00
R4271:BC067074	UTSW	13	113342370	missense	possibly damaging	0.76
R4382:BC067074	UTSW	13	113322754	missense	probably benign	0.10
R4484:BC067074	UTSW	13	113319199	missense	probably damaging	0.98
R4570:BC067074	UTSW	13	113318191	missense	probably damaging	1.00
R4600:BC067074	UTSW	13	113319249	missense	possibly damaging	0.95
R4622:BC067074	UTSW	13	113320081	missense	probably benign	0.00
R4676:BC067074	UTSW	13	113368807	missense	probably damaging	0.98
R4676:BC067074	UTSW	13	113368808	missense	probably damaging	1.00
R4677:BC067074	UTSW	13	113379486	missense	unknown
R4775:BC067074	UTSW	13	113317695	missense	possibly damaging	0.91
R4779:BC067074	UTSW	13	113368336	missense	possibly damaging	0.87
R4780:BC067074	UTSW	13	113317858	missense	probably damaging	1.00
R4829:BC067074	UTSW	13	113368162	missense	probably benign	0.05
R4841:BC067074	UTSW	13	113366190	missense	probably benign	0.00
R4879:BC067074	UTSW	13	113319787	missense	probably benign	0.03
R4930:BC067074	UTSW	13	113327662	missense	probably damaging	1.00
R4934:BC067074	UTSW	13	113368348	missense	probably damaging	1.00
R4987:BC067074	UTSW	13	113318101	missense	probably benign	0.07
R5065:BC067074	UTSW	13	113320919	missense	probably benign	0.01
R5216:BC067074	UTSW	13	113342413	missense	probably benign	0.20
R5236:BC067074	UTSW	13	113366220	missense	probably benign	0.14
R5247:BC067074	UTSW	13	113319459	missense	probably damaging	1.00
R5250:BC067074	UTSW	13	113319771	missense	possibly damaging	0.95
R5337:BC067074	UTSW	13	113318765	missense	probably damaging	1.00
R5342:BC067074	UTSW	13	113366269	critical splice donor site	probably null
R5426:BC067074	UTSW	13	113369053	missense	probably benign	0.01
R5472:BC067074	UTSW	13	113319169	missense	probably benign	0.12
R5526:BC067074	UTSW	13	113367893	missense	probably benign	0.22
R5543:BC067074	UTSW	13	113320873	missense	probably damaging	0.96
R5589:BC067074	UTSW	13	113317950	missense	possibly damaging	0.95
R5623:BC067074	UTSW	13	113346634	missense	possibly damaging	0.95
R5668:BC067074	UTSW	13	113317167	missense	possibly damaging	0.55
R5793:BC067074	UTSW	13	113321022	missense	possibly damaging	0.75
R5824:BC067074	UTSW	13	113368620	missense	probably damaging	1.00
R6038:BC067074	UTSW	13	113318619	missense	possibly damaging	0.49
R6038:BC067074	UTSW	13	113318619	missense	possibly damaging	0.49
R6053:BC067074	UTSW	13	113320726	missense	possibly damaging	0.51
R6125:BC067074	UTSW	13	113317683	missense	probably benign	0.00
R6129:BC067074	UTSW	13	113368806	nonsense	probably null
R6290:BC067074	UTSW	13	113319958	missense	probably damaging	0.97
R6291:BC067074	UTSW	13	113320447	missense	possibly damaging	0.85
R6302:BC067074	UTSW	13	113368112	missense	probably damaging	1.00
R6317:BC067074	UTSW	13	113368268	missense	probably benign	0.09
R6395:BC067074	UTSW	13	113369469	missense	probably damaging	1.00
R6673:BC067074	UTSW	13	113367832	nonsense	probably null
R6783:BC067074	UTSW	13	113320209	nonsense	probably null
R6800:BC067074	UTSW	13	113368152	missense	probably benign	0.02
R6857:BC067074	UTSW	13	113319958	missense	probably damaging	0.97
R6889:BC067074	UTSW	13	113318378	missense	probably damaging	0.99
R6934:BC067074	UTSW	13	113369266	missense	probably benign
R7019:BC067074	UTSW	13	113351750	missense	probably benign	0.01
R7100:BC067074	UTSW	13	113318967	missense
R7115:BC067074	UTSW	13	113320776	missense
R7152:BC067074	UTSW	13	113318850	missense
R7195:BC067074	UTSW	13	113367929	missense
R7213:BC067074	UTSW	13	113317941	missense
R7250:BC067074	UTSW	13	113318815	missense
R7341:BC067074	UTSW	13	113318172	missense
R7358:BC067074	UTSW	13	113319967	missense
R7359:BC067074	UTSW	13	113342430	missense
R7396:BC067074	UTSW	13	113318990	missense
R7632:BC067074	UTSW	13	113320886	missense
R7689:BC067074	UTSW	13	113379414	missense
R7713:BC067074	UTSW	13	113346541	missense
R7892:BC067074	UTSW	13	113319606	missense
R7975:BC067074	UTSW	13	113319307	missense
R8017:BC067074	UTSW	13	113319623	missense
R8019:BC067074	UTSW	13	113319623	missense
R8034:BC067074	UTSW	13	113342511	missense
R8101:BC067074	UTSW	13	113320891	missense
R8104:BC067074	UTSW	13	113319729	missense
R8122:BC067074	UTSW	13	113318908	missense
R8126:BC067074	UTSW	13	113368163	missense
R8272:BC067074	UTSW	13	113368355	missense
R8679:BC067074	UTSW	13	113351629	missense
R8973:BC067074	UTSW	13	113319759	missense
R9123:BC067074	UTSW	13	113368840	missense
R9125:BC067074	UTSW	13	113368840	missense
R9182:BC067074	UTSW	13	113320824	missense
R9233:BC067074	UTSW	13	113366220	missense
R9264:BC067074	UTSW	13	113319480	missense
R9306:BC067074	UTSW	13	113369476	missense	unknown
R9327:BC067074	UTSW	13	113317176	missense
R9411:BC067074	UTSW	13	113368233	missense
R9516:BC067074	UTSW	13	113319115	missense
R9562:BC067074	UTSW	13	113368040	missense	not run

Posted On

2014-01-21