Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02043:Carmil1'

184864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Carmil1

Ensembl Gene

ENSMUSG00000021338

Gene Name

capping protein regulator and myosin 1 linker 1

Synonyms

1110037D04Rik, Lrrc16, Lrrc16a, Carmil

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

24012344-24280795 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 24024316 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072889] [ENSMUST00000110398] [ENSMUST00000125901]

Predicted Effect

probably benign
Transcript: ENSMUST00000072889

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338

Domain	Start	End	E-Value	Type
low complexity region	19	37	N/A	INTRINSIC
LRR	245	272	2.42e1	SMART
LRR	275	302	1.04e1	SMART
LRR	304	331	3.1e0	SMART
LRR	336	363	5.66e1	SMART
Blast:LRR	423	450	9e-8	BLAST
Blast:LRR	451	484	7e-9	BLAST
LRR	574	601	8.81e-2	SMART
Blast:LRR	602	629	6e-10	BLAST
low complexity region	745	758	N/A	INTRINSIC
Pfam:CARMIL_C	790	1083	1.1e-101	PFAM
low complexity region	1131	1147	N/A	INTRINSIC
low complexity region	1245	1251	N/A	INTRINSIC
low complexity region	1253	1268	N/A	INTRINSIC
low complexity region	1287	1296	N/A	INTRINSIC
low complexity region	1317	1332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110398

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338

Domain	Start	End	E-Value	Type
low complexity region	19	37	N/A	INTRINSIC
LRR	245	272	2.42e1	SMART
LRR	275	302	1.04e1	SMART
LRR	304	331	3.1e0	SMART
LRR	336	363	5.66e1	SMART
Blast:LRR	423	450	9e-8	BLAST
LRR	451	480	3.15e1	SMART
Pfam:LRR_6	481	507	1.9e-2	PFAM
LRR	570	597	8.81e-2	SMART
Blast:LRR	598	625	6e-10	BLAST
low complexity region	741	754	N/A	INTRINSIC
low complexity region	879	888	N/A	INTRINSIC
PDB:3LK3\|T	964	1076	1e-56	PDB
low complexity region	1127	1143	N/A	INTRINSIC
low complexity region	1241	1247	N/A	INTRINSIC
low complexity region	1249	1264	N/A	INTRINSIC
low complexity region	1283	1292	N/A	INTRINSIC
low complexity region	1313	1325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125901

SMART Domains

Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338

Domain	Start	End	E-Value	Type
Blast:LRR	13	40	5e-8	BLAST
Blast:LRR	41	74	4e-9	BLAST
Pfam:LRR_6	75	101	4.4e-2	PFAM
Pfam:LRR_6	164	187	1.6e-3	PFAM
Blast:LRR	192	219	7e-10	BLAST
low complexity region	335	348	N/A	INTRINSIC
low complexity region	473	482	N/A	INTRINSIC
PDB:3LK3\|T	564	676	4e-57	PDB
low complexity region	727	743	N/A	INTRINSIC
low complexity region	841	847	N/A	INTRINSIC
low complexity region	849	864	N/A	INTRINSIC
low complexity region	883	892	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151566

SMART Domains

Protein: ENSMUSP00000120971
Gene: ENSMUSG00000021338

Domain	Start	End	E-Value	Type
transmembrane domain	138	160	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,868		probably benign	Het
Atp1b2	T	C	11: 69,605,276	T33A	probably benign	Het
Brd2	A	T	17: 34,112,616		probably benign	Het
Cdh9	A	T	15: 16,856,232	D786V	probably damaging	Het
Cep128	A	C	12: 91,266,730		probably benign	Het
Cep85	T	C	4: 134,155,727	T284A	probably benign	Het
Chrna1	C	T	2: 73,568,106	E330K	probably benign	Het
Clec2l	T	C	6: 38,676,850	Y104H	probably damaging	Het
Clybl	G	T	14: 122,379,252	K226N	probably damaging	Het
Cmip	T	A	8: 117,445,328	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340		probably null	Het
Crisp4	A	G	1: 18,134,100	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,274,150	Y261H	probably damaging	Het
Cul5	C	A	9: 53,658,673	G86V	probably benign	Het
Depdc7	T	C	2: 104,730,281	T123A	probably benign	Het
Edem2	T	C	2: 155,705,741	T384A	probably damaging	Het
F8	C	T	X: 75,332,641	M377I	probably benign	Het
Fan1	T	A	7: 64,371,619		probably null	Het
Fez2	T	C	17: 78,381,622	D366G	probably damaging	Het
Gm4841	A	C	18: 60,270,965	S19A	probably benign	Het
Gm4862	T	A	3: 139,128,635		noncoding transcript	Het
Hk3	T	A	13: 55,015,095	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,866,815	L56F	probably damaging	Het
Ldlr	A	G	9: 21,733,499	T108A	probably benign	Het
Lgr4	T	A	2: 110,011,290	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,697,525	N3906S	probably null	Het
Lrrtm4	A	G	6: 80,021,862	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,207,534	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,262,422		probably null	Het
Mvp	A	T	7: 126,993,618	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,399,965	S711P	probably benign	Het
Myom3	A	G	4: 135,770,675	K189E	probably damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Nlrp10	T	C	7: 108,925,502	E257G	probably damaging	Het
Nptn	T	G	9: 58,640,729	M139R	possibly damaging	Het
Nrk	T	G	X: 138,988,795	M1105R	possibly damaging	Het
Olfr357	T	A	2: 36,997,465	Y218*	probably null	Het
Olfr519	A	T	7: 108,893,839	C189*	probably null	Het
Olfr963	T	G	9: 39,669,078	V7G	probably damaging	Het
Pcdhb16	A	G	18: 37,479,195	T403A	probably benign	Het
Pcyt1b	A	G	X: 93,702,116	E50G	possibly damaging	Het
Pigg	C	T	5: 108,344,324	T892I	probably damaging	Het
Ppig	T	G	2: 69,735,983		probably null	Het
Prr12	A	G	7: 45,050,005		probably benign	Het
Slc5a5	G	T	8: 70,892,429	A78E	possibly damaging	Het
Slc7a2	T	G	8: 40,911,058	M436R	probably benign	Het
Sp7	T	A	15: 102,359,255	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134		probably benign	Het
Svep1	A	G	4: 58,068,556	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,774,089		probably benign	Het
Tmem63a	C	T	1: 180,972,788	T714I	probably benign	Het
Trank1	T	C	9: 111,363,960	L535P	probably damaging	Het
Tuba8	A	C	6: 121,220,511	N44T	probably benign	Het
Wnk1	A	G	6: 119,949,078		probably benign	Het
Zfp654	A	T	16: 64,785,028	I396K	probably benign	Het

Other mutations in Carmil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Carmil1	APN	13	24111838	missense	possibly damaging	0.68
IGL00392:Carmil1	APN	13	24094491	missense	probably damaging	1.00
IGL00943:Carmil1	APN	13	24111886	missense	possibly damaging	0.48
IGL01375:Carmil1	APN	13	24094471	missense	possibly damaging	0.88
IGL02122:Carmil1	APN	13	24036558	missense	possibly damaging	0.95
IGL02178:Carmil1	APN	13	24094403	missense	probably damaging	1.00
IGL02264:Carmil1	APN	13	24075716	missense	possibly damaging	0.95
IGL02269:Carmil1	APN	13	24155410	nonsense	probably null
IGL02546:Carmil1	APN	13	24115499	missense	probably damaging	0.98
IGL02740:Carmil1	APN	13	24094518	missense	probably damaging	0.98
IGL02876:Carmil1	APN	13	24154668	unclassified	probably benign
IGL02976:Carmil1	APN	13	24092551	missense	possibly damaging	0.96
IGL03012:Carmil1	APN	13	24036372	missense	probably benign	0.19
IGL03107:Carmil1	APN	13	24094455	missense	probably damaging	0.99
H8562:Carmil1	UTSW	13	24064647	missense	probably benign	0.00
R0085:Carmil1	UTSW	13	24025867	missense	probably benign
R0119:Carmil1	UTSW	13	24082020	missense	probably damaging	0.98
R0166:Carmil1	UTSW	13	24099049	missense	probably damaging	1.00
R0299:Carmil1	UTSW	13	24082020	missense	probably damaging	0.98
R0304:Carmil1	UTSW	13	24139341	missense	probably damaging	0.99
R0335:Carmil1	UTSW	13	24073983	missense	probably damaging	1.00
R0369:Carmil1	UTSW	13	24082020	missense	probably damaging	0.98
R0462:Carmil1	UTSW	13	24022511	missense	probably benign	0.01
R1203:Carmil1	UTSW	13	24099006	missense	probably damaging	1.00
R1540:Carmil1	UTSW	13	24099054	missense	possibly damaging	0.92
R1730:Carmil1	UTSW	13	24041689	missense	probably damaging	1.00
R1770:Carmil1	UTSW	13	24173674	missense	probably damaging	1.00
R1831:Carmil1	UTSW	13	24164879	missense	probably benign	0.00
R1893:Carmil1	UTSW	13	24024463	missense	possibly damaging	0.72
R2099:Carmil1	UTSW	13	24173667	missense	probably benign	0.00
R2153:Carmil1	UTSW	13	24141673	missense	probably damaging	0.97
R2296:Carmil1	UTSW	13	24115509	missense	probably damaging	1.00
R2869:Carmil1	UTSW	13	24045068	synonymous	silent
R2872:Carmil1	UTSW	13	24045068	synonymous	silent
R3113:Carmil1	UTSW	13	24069757	missense	probably benign	0.22
R3508:Carmil1	UTSW	13	24019676	utr 3 prime	probably benign
R3780:Carmil1	UTSW	13	24137169	missense	probably damaging	0.99
R3954:Carmil1	UTSW	13	24013407	missense	probably benign	0.00
R4027:Carmil1	UTSW	13	24067223	splice site	probably benign
R4086:Carmil1	UTSW	13	24024461	missense	possibly damaging	0.56
R4647:Carmil1	UTSW	13	24137179	missense	probably damaging	1.00
R4792:Carmil1	UTSW	13	24067190	missense	probably damaging	1.00
R4792:Carmil1	UTSW	13	24141676	missense	possibly damaging	0.96
R5012:Carmil1	UTSW	13	24024420	missense	possibly damaging	0.81
R5166:Carmil1	UTSW	13	24154983	critical splice donor site	probably null
R5199:Carmil1	UTSW	13	24111870	missense	probably damaging	1.00
R5330:Carmil1	UTSW	13	24025946	splice site	probably null
R5472:Carmil1	UTSW	13	24155471	missense	probably damaging	0.97
R5478:Carmil1	UTSW	13	24112045	missense	probably damaging	1.00
R5496:Carmil1	UTSW	13	24155450	missense	probably damaging	1.00
R5775:Carmil1	UTSW	13	24276537	missense	probably benign
R5789:Carmil1	UTSW	13	24121848	missense	probably damaging	1.00
R5794:Carmil1	UTSW	13	24092550	missense	probably damaging	1.00
R5977:Carmil1	UTSW	13	24069736	missense	probably damaging	1.00
R6127:Carmil1	UTSW	13	24036352	missense	probably benign	0.03
R6128:Carmil1	UTSW	13	24013194	nonsense	probably null
R6403:Carmil1	UTSW	13	24081967	missense	probably damaging	1.00
R6450:Carmil1	UTSW	13	24036564	missense	probably damaging	0.98
R6451:Carmil1	UTSW	13	24092558	nonsense	probably null
R6684:Carmil1	UTSW	13	24022542	missense	unknown
R6891:Carmil1	UTSW	13	24141723	missense	probably benign	0.13
R6902:Carmil1	UTSW	13	24115545	missense	possibly damaging	0.79
R6924:Carmil1	UTSW	13	24075684	nonsense	probably null
R6946:Carmil1	UTSW	13	24115545	missense	possibly damaging	0.79
R7038:Carmil1	UTSW	13	24139335	missense	probably damaging	1.00
R7179:Carmil1	UTSW	13	24020069	missense	probably benign	0.00
R7282:Carmil1	UTSW	13	24013404	missense	probably benign
R7286:Carmil1	UTSW	13	24013394	missense	probably damaging	0.96
R7397:Carmil1	UTSW	13	24044311	missense	probably damaging	0.99
R7412:Carmil1	UTSW	13	24098810	missense	possibly damaging	0.50
R7611:Carmil1	UTSW	13	24013332	missense	probably benign	0.30
R7642:Carmil1	UTSW	13	24067206	missense	probably benign	0.12
R7827:Carmil1	UTSW	13	24036438	missense	probably benign	0.00
R7890:Carmil1	UTSW	13	24013232	missense
R8014:Carmil1	UTSW	13	24036321	missense	possibly damaging	0.71
R8068:Carmil1	UTSW	13	24075728	missense	probably benign	0.00
R8361:Carmil1	UTSW	13	24067130	critical splice donor site	probably null
X0025:Carmil1	UTSW	13	24099043	missense	possibly damaging	0.47
Z1088:Carmil1	UTSW	13	24044182	nonsense	probably null

Posted On

2014-05-07