Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:BC067074'

569887

Institutional Source

Beutler Lab

Gene Symbol

BC067074

Ensembl Gene

ENSMUSG00000021763

Gene Name

cDNA sequence BC067074

Synonyms

MMRRC Submission

045431-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113293159-113379711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113318172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 251 (G251C)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

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

AlphaFold

F6RXI4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: G251C

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam3	T	A	8: 24,687,980	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,556,874	C756S	probably damaging	Het
AI314180	A	T	4: 58,809,415	V1653D	possibly damaging	Het
Arhgap31	C	T	16: 38,712,514		probably null	Het
Ascl4	G	A	10: 85,928,665	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,981,759	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,223,116	L923I	probably damaging	Het
Birc6	T	A	17: 74,612,074	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,788,857	N3025S	probably benign	Het
Bub1b	C	A	2: 118,636,786	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,577,452	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,280,627	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,526,713	N437K	probably benign	Het
Cdhr2	T	A	13: 54,719,492	L408Q	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Chd1	T	C	17: 15,770,237	S1684P	probably damaging	Het
CN725425	A	G	15: 91,242,670	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,398,678	V66A	probably damaging	Het
Cpd	C	A	11: 76,846,953	R5L	unknown	Het
Cpeb4	C	T	11: 31,918,807	T422I	possibly damaging	Het
Cyp1a1	G	T	9: 57,700,824	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,486,954	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,321,750	F122L	probably benign	Het
Drc1	T	A	5: 30,364,468	L728Q	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Ermp1	T	A	19: 29,646,254	H112L	probably benign	Het
Exoc8	T	C	8: 124,896,581	D349G	probably damaging	Het
Fam151a	T	A	4: 106,735,510	M63K	probably benign	Het
Fmo9	C	A	1: 166,676,546	G149V	probably damaging	Het
Fndc8	A	G	11: 82,898,777	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,960,878	V365I	probably benign	Het
Frem2	C	T	3: 53,654,495	G864S	probably damaging	Het
Fstl5	T	A	3: 76,482,397		probably null	Het
Garnl3	T	A	2: 33,034,129	E247V	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gorasp1	T	A	9: 119,937,534		probably benign	Het
Hcar2	T	C	5: 123,864,478	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,299,569	M131I	probably damaging	Het
Kif13a	A	G	13: 46,826,745	V177A	probably damaging	Het
Limch1	C	T	5: 67,034,202	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,819	Y260C	possibly damaging	Het
Lmo7	A	G	14: 101,885,512	N379S	probably benign	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,714,511	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,607,267	Y303H	probably damaging	Het
Mecr	T	G	4: 131,843,675	V58G	probably null	Het
Med12l	T	A	3: 59,042,403	D193E	possibly damaging	Het
Moap1	T	C	12: 102,743,179	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,552,896	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Ndufs5	A	T	4: 123,715,951	C43*	probably null	Het
Oaz2	A	T	9: 65,688,901	D83V		Het
Olfr204	T	A	16: 59,315,149	N86I	possibly damaging	Het
Olfr329-ps	A	T	11: 58,542,707	Y269*	probably null	Het
Palm	A	G	10: 79,816,863	T191A	probably damaging	Het
Pclo	C	A	5: 14,675,836	D1569E	unknown	Het
Ppid	T	A	3: 79,600,297	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,750	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,485,797	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,176,072	T68A	probably benign	Het
Rbm15b	C	T	9: 106,885,047	G641R	probably benign	Het
Rgsl1	A	G	1: 153,793,845	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837	Y98*	probably null	Het
Sfxn3	T	G	19: 45,049,262	N52K	probably benign	Het
Slc17a3	G	T	13: 23,846,884	G182*	probably null	Het
Slc29a3	A	T	10: 60,750,658	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,862,934	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,595,437	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,369,261	S626T	probably benign	Het
Sp5	T	A	2: 70,476,697	L242*	probably null	Het
Spata25	C	G	2: 164,827,662	G143A	probably damaging	Het
Spata6	T	A	4: 111,768,738	Y101*	probably null	Het
Tdp2	T	G	13: 24,832,076	S89A	probably benign	Het
Tlr6	T	C	5: 64,953,629	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,795	I355V	probably benign	Het
Trappc8	A	T	18: 20,852,647	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,766,379	N399S	probably damaging	Het
Ube4b	A	G	4: 149,343,001	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp9y	A	T	Y: 1,315,759		probably null	Het
Vmn2r1	T	C	3: 64,105,456	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,086,247	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,091,945	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,924,244	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,891,460	M442K	possibly damaging	Het
Ydjc	T	C	16: 17,150,898	C234R	probably benign	Het
Zfp72	A	G	13: 74,372,348	Y204H	possibly damaging	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
R7195:BC067074	UTSW	13	113367929	missense
R7213:BC067074	UTSW	13	113317941	missense
R7250:BC067074	UTSW	13	113318815	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
R9605:BC067074	UTSW	13	113319969	missense

Predicted Primers

PCR Primer
(F):5'- GCGTTTAACCAGAGGGAGATC -3'
(R):5'- CATCCACCATGATGTCCACG -3'

Sequencing Primer
(F):5'- CATACCCTGGCTTTAAGAAGGTGTC -3'
(R):5'- GTGCCTCCCGGTGACTTTAAG -3'

Posted On

2019-09-13