Mutagenetix > Incidental Mutations

Incidental Mutation 'R7890:Carmil1'

609292

Institutional Source

Beutler Lab

Gene Symbol

Carmil1

Ensembl Gene

ENSMUSG00000021338

Gene Name

capping protein regulator and myosin 1 linker 1

Synonyms

1110037D04Rik, Lrrc16, Lrrc16a, Carmil

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24012344-24280795 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24013232 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 146 (S146T)

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

SMART Domains

Protein: ENSMUSP00000120971
Gene: ENSMUSG00000021338
AA Change: S146T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,884,122	K551N	probably benign	Het
Acp4	A	C	7: 44,254,104	L262R	probably damaging	Het
Acsf3	G	T	8: 122,785,965		probably null	Het
Ago4	T	C	4: 126,526,076	Q36R	probably benign	Het
Ankrd31	T	A	13: 96,831,871	I672K	probably benign	Het
Astn1	A	T	1: 158,580,333	D628V	probably damaging	Het
Brca2	T	C	5: 150,539,381	V870A	possibly damaging	Het
Camk4	T	C	18: 33,185,005	V405A	probably benign	Het
Cflar	T	A	1: 58,752,756	L406Q		Het
Clic6	T	A	16: 92,499,387	S312T	probably benign	Het
Col5a2	T	C	1: 45,404,987		probably null	Het
Ctc1	C	A	11: 69,026,529	Q384K	probably damaging	Het
Defa24	A	G	8: 21,734,540	K2E	probably damaging	Het
Dis3l	C	A	9: 64,322,471	A309S	probably benign	Het
Dnah9	A	G	11: 66,072,072	S1806P	probably damaging	Het
Dolk	C	T	2: 30,284,714	V440I	probably damaging	Het
Erc2	A	G	14: 28,040,341		probably null	Het
Fntb	T	C	12: 76,873,450		probably null	Het
Gm12569	C	T	11: 51,234,838	S196L	probably damaging	Het
Gm4846	A	T	1: 166,494,659	V113E	probably benign	Het
Gm5592	G	T	7: 41,286,759	Q228H	probably damaging	Het
Gm5916	T	A	9: 36,120,995	T48S	possibly damaging	Het
Ift172	G	T	5: 31,283,081	Y287*	probably null	Het
Il27ra	T	C	8: 84,033,985	I450M	probably damaging	Het
Krtap31-2	T	A	11: 99,936,551	C70S	possibly damaging	Het
Lipo4	T	A	19: 33,501,564	H292L	probably damaging	Het
Lyst	T	C	13: 13,740,569	F3283L	probably damaging	Het
Mctp1	T	G	13: 76,827,757	C750G	probably damaging	Het
Mtmr7	T	C	8: 40,551,735	D600G	possibly damaging	Het
Mylk	C	T	16: 34,963,648	Q1395*	probably null	Het
Nap1l5	T	A	6: 58,906,888	D27V	probably damaging	Het
Nfkbib	T	C	7: 28,762,087	D75G	probably damaging	Het
Nlrc4	T	A	17: 74,437,508	M793L	probably benign	Het
Olfr451-ps1	T	A	6: 42,801,492	C250*	probably null	Het
Olfr472	T	C	7: 107,903,043	S109P	probably benign	Het
Olfr599	G	T	7: 103,338,330	C92F	probably benign	Het
Olfr832	T	C	9: 18,945,503	M285T	probably benign	Het
Olfr970	C	T	9: 39,820,014	A125V	probably damaging	Het
Pcdh15	G	A	10: 74,642,314	R207Q	probably damaging	Het
Plek	T	C	11: 16,995,238	T54A	probably benign	Het
Pno1	C	A	11: 17,211,443	R22L	probably benign	Het
Prkca	A	T	11: 108,012,684	N287K	probably damaging	Het
Rapgef6	C	G	11: 54,626,723	H414D	probably damaging	Het
Rpa1	CA	C	11: 75,307,224		probably null	Het
Rpap2	T	C	5: 107,606,911	C136R	probably damaging	Het
Rtl1	C	T	12: 109,592,817	E863K	possibly damaging	Het
Ryr3	A	T	2: 112,926,912	I366N	probably damaging	Het
Scn9a	T	C	2: 66,543,112	I508V	probably benign	Het
Sec14l3	A	G	11: 4,074,795	D248G	probably damaging	Het
Six6	A	T	12: 72,940,543	Q163L	probably benign	Het
Slco6c1	A	G	1: 97,062,467	V683A	possibly damaging	Het
Smc1b	A	G	15: 85,066,328	V1165A	probably damaging	Het
Smgc	A	T	15: 91,847,076	Q241L	possibly damaging	Het
Tdrp	A	T	8: 13,955,727	S65T	probably damaging	Het
Tg	A	T	15: 66,683,814	Y785F	probably damaging	Het
Themis2	T	G	4: 132,789,643	Q182P	probably damaging	Het
Tmem86b	G	T	7: 4,628,405	S216*	probably null	Het
Ttyh2	T	A	11: 114,686,446	I61N	possibly damaging	Het
Vmn2r97	A	T	17: 18,929,540	T397S	probably benign	Het
Zfp141	C	T	7: 42,476,479	D190N	probably damaging	Het
Zfp58	T	C	13: 67,491,995	R126G	possibly damaging	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
IGL02043:Carmil1	APN	13	24024316	unclassified	probably benign
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
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
R8469:Carmil1	UTSW	13	24112028	missense	probably damaging	1.00
X0025:Carmil1	UTSW	13	24099043	missense	possibly damaging	0.47
Z1088:Carmil1	UTSW	13	24044182	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAATGTGTAGCTGCCTCAG -3'
(R):5'- ATTTCAGCCTCAAGGAGAAGC -3'

Sequencing Primer
(F):5'- GTGTAGCTGCCTCAGAGAAATTC -3'
(R):5'- ACAGAAGCAACGGTCCTCGG -3'

Posted On

2019-12-20