Mutagenetix > Incidental Mutation

Incidental Mutation 'R4930:BC067074'

381187

Institutional Source

Beutler Lab

Gene Symbol

BC067074

Ensembl Gene

ENSMUSG00000021763

Gene Name

cDNA sequence BC067074

Synonyms

MMRRC Submission

042531-MU

Accession Numbers

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

Essential gene?

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

Stock #

R4930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113293159-113379711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113327662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 1453 (G1453C)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

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

AlphaFold

F6RXI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000136755
AA Change: G1453C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: G1453C

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: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,906,234	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,222,404	M499T	possibly damaging	Het
Abcb8	G	A	5: 24,400,781	V196M	possibly damaging	Het
Ahnak	T	C	19: 9,010,967	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,115,033	Y265H	probably damaging	Het
Apeh	A	G	9: 108,087,825	S446P	probably benign	Het
Apip	C	A	2: 103,091,881	Y197*	probably null	Het
Arhgef11	T	G	3: 87,728,594	V925G	probably damaging	Het
Arid4b	T	C	13: 14,187,477	V929A	probably damaging	Het
Asah2	T	A	19: 32,052,906	D122V	probably benign	Het
B2m	A	T	2: 122,151,647	D116V	possibly damaging	Het
Bhmt-ps1	A	G	4: 26,369,184		noncoding transcript	Het
Cacna1g	T	A	11: 94,444,073	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,690,285	V113E	probably damaging	Het
Cenpj	A	T	14: 56,534,781	Y388*	probably null	Het
Chd3	G	A	11: 69,354,208		probably benign	Het
Chil3	C	T	3: 106,164,208	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,499,959	T361A	possibly damaging	Het
Cops3	C	A	11: 59,835,367		probably benign	Het
Crb2	G	T	2: 37,783,314	G74V	probably damaging	Het
Cyp20a1	A	T	1: 60,366,719	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,141,166		probably benign	Het
Dnah3	A	T	7: 119,951,681	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 127,041,355	S14A	possibly damaging	Het
Ehf	C	A	2: 103,266,857	R250L	probably damaging	Het
Eps8l1	G	A	7: 4,460,916	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,656,315	V257G	possibly damaging	Het
Gc	T	C	5: 89,439,589	T259A	probably benign	Het
Gm4952	A	T	19: 12,627,012	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,546,874	H326L	probably damaging	Het
Helz	T	C	11: 107,620,168	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,318,836	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,272,698		probably null	Het
Ighv1-81	T	C	12: 115,920,304	D109G	probably damaging	Het
Irx4	T	C	13: 73,268,913	V476A	probably benign	Het
Katnb1	T	A	8: 95,097,294		probably null	Het
L3mbtl1	A	G	2: 162,965,772	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,193,832		probably null	Het
Lrrc38	A	T	4: 143,369,868	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215	Y34*	probably null	Het
Mgst1	T	A	6: 138,153,509	F79I	probably benign	Het
Midn	T	C	10: 80,155,355	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640	D208E	probably benign	Het
Mrps26	A	G	2: 130,564,942	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,503,157	M371K	probably benign	Het
Mynn	A	C	3: 30,607,042	N91T	probably damaging	Het
Nek11	A	G	9: 105,300,066	L292P	probably damaging	Het
Nid1	A	T	13: 13,510,011	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,320,929	Y121H	probably damaging	Het
Olfr1020	T	A	2: 85,849,893	I147N	probably benign	Het
Olfr1166	A	C	2: 88,124,340	I215S	probably benign	Het
Olfr1178	G	A	2: 88,391,940	R231H	probably benign	Het
Olfr1497	T	C	19: 13,795,551	H20R	probably benign	Het
Olfr161	T	G	16: 3,592,435	L13R	probably damaging	Het
Olfr204	C	A	16: 59,314,873	C178F	probably damaging	Het
Olfr872	T	C	9: 20,260,017	I59T	probably damaging	Het
P2rx7	C	T	5: 122,670,479	T308M	probably damaging	Het
Prdx6	C	T	1: 161,241,693		probably benign	Het
Rad54b	T	A	4: 11,615,579	D862E	probably damaging	Het
Ripor1	A	G	8: 105,617,182	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,453,465	M43V	probably benign	Het
Rp1l1	A	G	14: 64,032,206	N1747S	probably benign	Het
Rps27	A	G	3: 90,212,999	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236	V86A	possibly damaging	Het
Spdef	A	G	17: 27,718,162	Y156H	probably damaging	Het
Specc1	A	C	11: 62,118,958	E433D	possibly damaging	Het
Srpr	T	A	9: 35,215,030	F506L	probably benign	Het
Stxbp5	A	G	10: 9,760,866		probably benign	Het
Syne1	C	T	10: 5,052,777	R8046Q	probably damaging	Het
Tbx5	T	A	5: 119,883,025	S365R	probably benign	Het
Terb1	G	T	8: 104,447,948	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,661,948	Y27*	probably null	Het
Tmem106c	C	A	15: 97,965,028	A60E	possibly damaging	Het
Ttc26	A	T	6: 38,391,540	Y174F	probably damaging	Het
Ttc6	T	A	12: 57,673,823		probably null	Het
Ttn	T	C	2: 76,732,370	I28747V	possibly damaging	Het
Unc13a	C	T	8: 71,630,504		probably null	Het
Wdr81	T	C	11: 75,451,924	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,199,805	Q33E	probably benign	Het
Zfp456	T	C	13: 67,366,946	R214G	probably benign	Het
Zfp457	T	A	13: 67,294,100	Y137F	probably 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
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
R9605:BC067074	UTSW	13	113319969	missense

Predicted Primers

PCR Primer
(F):5'- AAGACATGCTTCTGTGCTTTAGG -3'
(R):5'- GCCATACATGTGCCTTGCTG -3'

Sequencing Primer
(F):5'- ACATGCTTCTGTGCTTTAGGGATTC -3'
(R):5'- CATGTGCCTTGCTGTTTTACAATAG -3'

Posted On

2016-04-15