Mutagenetix > Incidental Mutation

Incidental Mutation 'R7195:BC067074'

559880

Institutional Source

Beutler Lab

Gene Symbol

BC067074

Ensembl Gene

ENSMUSG00000021763

Gene Name

cDNA sequence BC067074

Synonyms

MMRRC Submission

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R7195 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113293159-113379711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113367929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1864 (D1864V)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

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

AlphaFold

F6RXI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078163
AA Change: D322V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: D322V

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

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: D1864V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	C	11: 58,288,416		probably null	Het
4930563D23Rik	C	T	16: 92,321,149	V84M	probably damaging	Het
Abca2	A	G	2: 25,442,076	D1400G	probably benign	Het
Actl11	A	T	9: 107,928,870	K131*	probably null	Het
Adam39	A	T	8: 40,824,775	R68*	probably null	Het
Akap7	A	T	10: 25,271,507	N108K	probably damaging	Het
Arhgef10l	C	A	4: 140,611,410	A14S	probably benign	Het
Ccdc141	T	G	2: 77,049,583	N632T	probably benign	Het
Ccm2	T	C	11: 6,596,302	S435P	probably damaging	Het
Cd36	A	G	5: 17,814,189	L178P	probably damaging	Het
Cd7	T	C	11: 121,038,249	I59V	probably benign	Het
Cds2	T	A	2: 132,293,284	S32T	probably benign	Het
Cep19	A	G	16: 32,107,086	D104G	probably damaging	Het
Col1a2	C	T	6: 4,510,753	P68S	unknown	Het
Col20a1	A	G	2: 181,007,231	H1011R	probably damaging	Het
D7Ertd443e	A	G	7: 134,295,122	V513A	probably damaging	Het
Egfr	C	T	11: 16,868,162	P228L	probably damaging	Het
Fam78b	A	G	1: 167,078,562	R97G	probably damaging	Het
Flt1	C	T	5: 147,603,576	V768M	probably damaging	Het
Gdap1l1	A	T	2: 163,446,130	N96Y	probably damaging	Het
Gm7168	T	A	17: 13,949,360	Y330N	probably benign	Het
Hnrnpul1	T	C	7: 25,724,778	N683S	unknown	Het
Ice2	C	T	9: 69,428,500	P922S	possibly damaging	Het
Iglv2	A	G	16: 19,260,510	V81A	not run	Het
Irs1	A	G	1: 82,287,456	I1013T	probably benign	Het
Itih4	T	C	14: 30,899,475	S832P	probably damaging	Het
Klhl1	A	T	14: 96,280,077	Y388N	probably benign	Het
Lrrc37a	G	A	11: 103,457,775	S2698L	unknown	Het
Map4k4	T	C	1: 40,019,669	Y1008H	possibly damaging	Het
Mdn1	G	T	4: 32,701,823	G1519W	probably damaging	Het
Mga	T	A	2: 119,917,328	D653E	probably damaging	Het
Npas1	T	C	7: 16,474,808	E48G	probably damaging	Het
Nup188	G	A	2: 30,341,830		probably null	Het
Olfr1215	G	A	2: 89,001,731	L186F		Het
Olfr33	A	G	7: 102,713,666	V249A	possibly damaging	Het
Olfr399	T	A	11: 74,054,397	M121L	probably damaging	Het
Olfr404-ps1	G	T	11: 74,239,568	M1I	probably null	Het
Olfr544	A	T	7: 102,484,367	V251D	probably damaging	Het
Olfr871	A	G	9: 20,212,544	N65S	probably damaging	Het
Oxct1	T	C	15: 4,128,901	V439A	probably damaging	Het
Pcdhb22	G	T	18: 37,519,288	G13W	probably damaging	Het
Pex11g	A	G	8: 3,459,237	V230A	probably benign	Het
Pop1	C	T	15: 34,510,379	S439L	probably damaging	Het
Ptpn9	T	A	9: 57,022,249	H83Q	probably benign	Het
Qrfp	C	T	2: 31,808,692	R76H	probably benign	Het
Slc30a3	A	G	5: 31,088,795	V197A	probably benign	Het
Slc8a3	T	C	12: 81,314,273	N591D	possibly damaging	Het
Sp4	G	T	12: 118,300,072	Q80K	possibly damaging	Het
Spock1	C	T	13: 57,907,502	G29D	possibly damaging	Het
Sprr1a	G	T	3: 92,484,367	P109Q	probably damaging	Het
Suz12	T	A	11: 80,013,483	F239L	probably damaging	Het
Tbx3	A	G	5: 119,675,583	Y248C	probably damaging	Het
Trabd2b	T	C	4: 114,409,440	L217P	probably damaging	Het
Ubxn11	A	C	4: 134,126,415	I398L	possibly damaging	Het
Vmn1r173	T	A	7: 23,702,459	S40T	probably damaging	Het
Vmn2r2	T	C	3: 64,116,479	S894G	probably benign	Het
Vmn2r65	A	G	7: 84,943,139		probably null	Het
Vps13c	G	A	9: 67,945,825	G2400D	possibly damaging	Het
Vps8	T	C	16: 21,456,282	Y197H	probably damaging	Het
Wdr91	T	C	6: 34,889,274	N486D	possibly damaging	Het
Wwp1	A	G	4: 19,627,908	I695T	possibly damaging	Het
Zc3hc1	T	C	6: 30,382,548	D133G	probably benign	Het
Zcchc14	T	C	8: 121,608,461	I307V	unknown	Het
Zfp933	G	A	4: 147,826,179	T320I	probably benign	Het

Other mutations in BC067074

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:BC067074	APN	13	113367557	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- TCATGACGACTCCGAATCACTG -3'
(R):5'- AAAACACTCCCGAGGATGG -3'

Sequencing Primer
(F):5'- CCGAATCACTGGCTGATAATTTTACC -3'
(R):5'- ATGGGCTTCTATCTTGTATGAACCAC -3'

Posted On

2019-06-26