Mutagenetix > Incidental Mutation

Incidental Mutation 'R6684:Carmil1'

527624

Institutional Source

Beutler Lab

Gene Symbol

Carmil1

Ensembl Gene

ENSMUSG00000021338

Gene Name

capping protein regulator and myosin 1 linker 1

Synonyms

Carmil, Lrrc16a, 1110037D04Rik, Lrrc16

MMRRC Submission

044803-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24196327-24464778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24206525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 5 (T5M)

Gene Model

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

AlphaFold

Q6EDY6

Predicted Effect

silent
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

silent
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

silent
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

unknown
Transcript: ENSMUST00000151566
AA Change: T5M

SMART Domains

Protein: ENSMUSP00000120971
Gene: ENSMUSG00000021338
AA Change: T5M

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

94% (33/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,774,137 (GRCm39)	R322W	probably damaging	Het
Capns1	C	A	7: 29,893,324 (GRCm39)	G63V	probably damaging	Het
Cr2	T	A	1: 194,853,329 (GRCm39)	K70*	probably null	Het
Dapk1	T	A	13: 60,908,708 (GRCm39)	I1107N	probably damaging	Het
Ehd4	A	G	2: 119,984,815 (GRCm39)	F48L	probably damaging	Het
Fam221a	G	T	6: 49,349,542 (GRCm39)	E36*	probably null	Het
Fam81b	G	A	13: 76,350,157 (GRCm39)	Q423*	probably null	Het
Galnt7	C	T	8: 57,991,143 (GRCm39)	V456I	probably benign	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Hrc	A	G	7: 44,985,956 (GRCm39)	H369R	possibly damaging	Het
Impg2	T	G	16: 56,080,292 (GRCm39)	S590A	probably benign	Het
Lcn3	A	T	2: 25,656,170 (GRCm39)	H75L	probably benign	Het
Lims1	T	A	10: 58,234,835 (GRCm39)		probably null	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Or5p79	A	G	7: 108,221,141 (GRCm39)	T41A	probably damaging	Het
Orai3	A	G	7: 127,372,892 (GRCm39)	N131S	probably damaging	Het
Pcdhga7	T	C	18: 37,849,103 (GRCm39)	L370P	probably damaging	Het
Phtf2	A	G	5: 21,017,937 (GRCm39)		probably benign	Het
Plcg2	T	C	8: 118,323,071 (GRCm39)	Y709H	probably damaging	Het
Pmfbp1	T	C	8: 110,262,462 (GRCm39)	S719P	probably benign	Het
Polr3g	A	T	13: 81,847,650 (GRCm39)		probably null	Het
Ppp4r1	G	A	17: 66,131,337 (GRCm39)	A360T	probably benign	Het
Pramel6	T	C	2: 87,339,748 (GRCm39)	W171R	probably damaging	Het
Rad54b	T	C	4: 11,583,689 (GRCm39)		probably benign	Het
Rasl10a	G	A	11: 5,008,396 (GRCm39)	E31K	possibly damaging	Het
Ryr3	T	C	2: 112,583,433 (GRCm39)	R2813G	probably damaging	Het
Tmem71	A	G	15: 66,413,539 (GRCm39)	S178P	possibly damaging	Het
Trim58	A	G	11: 58,542,446 (GRCm39)	T469A	probably benign	Het
Vash1	A	G	12: 86,735,683 (GRCm39)	T190A	probably damaging	Het
Ythdc2	T	C	18: 45,006,136 (GRCm39)	S1210P	possibly damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het
Zfp595	T	C	13: 67,468,341 (GRCm39)	Y72C	probably damaging	Het

Other mutations in Carmil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Carmil1	APN	13	24,295,821 (GRCm39)	missense	possibly damaging	0.68
IGL00392:Carmil1	APN	13	24,278,474 (GRCm39)	missense	probably damaging	1.00
IGL00943:Carmil1	APN	13	24,295,869 (GRCm39)	missense	possibly damaging	0.48
IGL01375:Carmil1	APN	13	24,278,454 (GRCm39)	missense	possibly damaging	0.88
IGL02043:Carmil1	APN	13	24,208,299 (GRCm39)	unclassified	probably benign
IGL02122:Carmil1	APN	13	24,220,541 (GRCm39)	missense	possibly damaging	0.95
IGL02178:Carmil1	APN	13	24,278,386 (GRCm39)	missense	probably damaging	1.00
IGL02264:Carmil1	APN	13	24,259,699 (GRCm39)	missense	possibly damaging	0.95
IGL02269:Carmil1	APN	13	24,339,393 (GRCm39)	nonsense	probably null
IGL02546:Carmil1	APN	13	24,299,482 (GRCm39)	missense	probably damaging	0.98
IGL02740:Carmil1	APN	13	24,278,501 (GRCm39)	missense	probably damaging	0.98
IGL02876:Carmil1	APN	13	24,338,651 (GRCm39)	unclassified	probably benign
IGL02976:Carmil1	APN	13	24,276,534 (GRCm39)	missense	possibly damaging	0.96
IGL03012:Carmil1	APN	13	24,220,355 (GRCm39)	missense	probably benign	0.19
IGL03107:Carmil1	APN	13	24,278,438 (GRCm39)	missense	probably damaging	0.99
H8562:Carmil1	UTSW	13	24,248,630 (GRCm39)	missense	probably benign	0.00
R0085:Carmil1	UTSW	13	24,209,850 (GRCm39)	missense	probably benign
R0119:Carmil1	UTSW	13	24,266,003 (GRCm39)	missense	probably damaging	0.98
R0166:Carmil1	UTSW	13	24,283,032 (GRCm39)	missense	probably damaging	1.00
R0299:Carmil1	UTSW	13	24,266,003 (GRCm39)	missense	probably damaging	0.98
R0304:Carmil1	UTSW	13	24,323,324 (GRCm39)	missense	probably damaging	0.99
R0335:Carmil1	UTSW	13	24,257,966 (GRCm39)	missense	probably damaging	1.00
R0369:Carmil1	UTSW	13	24,266,003 (GRCm39)	missense	probably damaging	0.98
R0462:Carmil1	UTSW	13	24,206,494 (GRCm39)	missense	probably benign	0.01
R1203:Carmil1	UTSW	13	24,282,989 (GRCm39)	missense	probably damaging	1.00
R1540:Carmil1	UTSW	13	24,283,037 (GRCm39)	missense	possibly damaging	0.92
R1730:Carmil1	UTSW	13	24,225,672 (GRCm39)	missense	probably damaging	1.00
R1770:Carmil1	UTSW	13	24,357,657 (GRCm39)	missense	probably damaging	1.00
R1831:Carmil1	UTSW	13	24,348,862 (GRCm39)	missense	probably benign	0.00
R1893:Carmil1	UTSW	13	24,208,446 (GRCm39)	missense	possibly damaging	0.72
R2099:Carmil1	UTSW	13	24,357,650 (GRCm39)	missense	probably benign	0.00
R2153:Carmil1	UTSW	13	24,325,656 (GRCm39)	missense	probably damaging	0.97
R2296:Carmil1	UTSW	13	24,299,492 (GRCm39)	missense	probably damaging	1.00
R2869:Carmil1	UTSW	13	24,229,051 (GRCm39)	synonymous	silent
R2872:Carmil1	UTSW	13	24,229,051 (GRCm39)	synonymous	silent
R3113:Carmil1	UTSW	13	24,253,740 (GRCm39)	missense	probably benign	0.22
R3508:Carmil1	UTSW	13	24,203,659 (GRCm39)	utr 3 prime	probably benign
R3780:Carmil1	UTSW	13	24,321,152 (GRCm39)	missense	probably damaging	0.99
R3954:Carmil1	UTSW	13	24,197,390 (GRCm39)	missense	probably benign	0.00
R4027:Carmil1	UTSW	13	24,251,206 (GRCm39)	splice site	probably benign
R4086:Carmil1	UTSW	13	24,208,444 (GRCm39)	missense	possibly damaging	0.56
R4647:Carmil1	UTSW	13	24,321,162 (GRCm39)	missense	probably damaging	1.00
R4792:Carmil1	UTSW	13	24,325,659 (GRCm39)	missense	possibly damaging	0.96
R4792:Carmil1	UTSW	13	24,251,173 (GRCm39)	missense	probably damaging	1.00
R5012:Carmil1	UTSW	13	24,208,403 (GRCm39)	missense	possibly damaging	0.81
R5166:Carmil1	UTSW	13	24,338,966 (GRCm39)	critical splice donor site	probably null
R5199:Carmil1	UTSW	13	24,295,853 (GRCm39)	missense	probably damaging	1.00
R5330:Carmil1	UTSW	13	24,209,929 (GRCm39)	splice site	probably null
R5472:Carmil1	UTSW	13	24,339,454 (GRCm39)	missense	probably damaging	0.97
R5478:Carmil1	UTSW	13	24,296,028 (GRCm39)	missense	probably damaging	1.00
R5496:Carmil1	UTSW	13	24,339,433 (GRCm39)	missense	probably damaging	1.00
R5775:Carmil1	UTSW	13	24,460,520 (GRCm39)	missense	probably benign
R5789:Carmil1	UTSW	13	24,305,831 (GRCm39)	missense	probably damaging	1.00
R5794:Carmil1	UTSW	13	24,276,533 (GRCm39)	missense	probably damaging	1.00
R5977:Carmil1	UTSW	13	24,253,719 (GRCm39)	missense	probably damaging	1.00
R6127:Carmil1	UTSW	13	24,220,335 (GRCm39)	missense	probably benign	0.03
R6128:Carmil1	UTSW	13	24,197,177 (GRCm39)	nonsense	probably null
R6403:Carmil1	UTSW	13	24,265,950 (GRCm39)	missense	probably damaging	1.00
R6450:Carmil1	UTSW	13	24,220,547 (GRCm39)	missense	probably damaging	0.98
R6451:Carmil1	UTSW	13	24,276,541 (GRCm39)	nonsense	probably null
R6891:Carmil1	UTSW	13	24,325,706 (GRCm39)	missense	probably benign	0.13
R6902:Carmil1	UTSW	13	24,299,528 (GRCm39)	missense	possibly damaging	0.79
R6924:Carmil1	UTSW	13	24,259,667 (GRCm39)	nonsense	probably null
R6946:Carmil1	UTSW	13	24,299,528 (GRCm39)	missense	possibly damaging	0.79
R7038:Carmil1	UTSW	13	24,323,318 (GRCm39)	missense	probably damaging	1.00
R7179:Carmil1	UTSW	13	24,204,052 (GRCm39)	missense	probably benign	0.00
R7282:Carmil1	UTSW	13	24,197,387 (GRCm39)	missense	probably benign
R7286:Carmil1	UTSW	13	24,197,377 (GRCm39)	missense	probably damaging	0.96
R7397:Carmil1	UTSW	13	24,228,294 (GRCm39)	missense	probably damaging	0.99
R7412:Carmil1	UTSW	13	24,282,793 (GRCm39)	missense	possibly damaging	0.50
R7611:Carmil1	UTSW	13	24,197,315 (GRCm39)	missense	probably benign	0.30
R7642:Carmil1	UTSW	13	24,251,189 (GRCm39)	missense	probably benign	0.12
R7827:Carmil1	UTSW	13	24,220,421 (GRCm39)	missense	probably benign	0.00
R7890:Carmil1	UTSW	13	24,197,215 (GRCm39)	missense
R8014:Carmil1	UTSW	13	24,220,304 (GRCm39)	missense	possibly damaging	0.71
R8068:Carmil1	UTSW	13	24,259,711 (GRCm39)	missense	probably benign	0.00
R8214:Carmil1	UTSW	13	24,228,215 (GRCm39)	missense	probably damaging	0.99
R8247:Carmil1	UTSW	13	24,282,998 (GRCm39)	missense	probably damaging	1.00
R8272:Carmil1	UTSW	13	24,220,562 (GRCm39)	missense	probably benign
R8318:Carmil1	UTSW	13	24,220,442 (GRCm39)	missense	probably benign
R8361:Carmil1	UTSW	13	24,251,113 (GRCm39)	critical splice donor site	probably null
R8469:Carmil1	UTSW	13	24,296,011 (GRCm39)	missense	probably damaging	1.00
R8558:Carmil1	UTSW	13	24,209,863 (GRCm39)	missense	probably benign
R8698:Carmil1	UTSW	13	24,220,229 (GRCm39)	missense	probably damaging	1.00
R8722:Carmil1	UTSW	13	24,220,568 (GRCm39)	missense	probably benign	0.16
R8836:Carmil1	UTSW	13	24,339,029 (GRCm39)	missense	probably damaging	1.00
R8915:Carmil1	UTSW	13	24,325,709 (GRCm39)	missense	probably damaging	0.99
R8931:Carmil1	UTSW	13	24,338,704 (GRCm39)	missense	probably benign	0.03
R8932:Carmil1	UTSW	13	24,197,179 (GRCm39)	missense
R9004:Carmil1	UTSW	13	24,225,662 (GRCm39)	missense	probably damaging	0.98
R9041:Carmil1	UTSW	13	24,282,793 (GRCm39)	missense	possibly damaging	0.50
R9103:Carmil1	UTSW	13	24,295,836 (GRCm39)	missense	probably benign	0.01
R9224:Carmil1	UTSW	13	24,292,512 (GRCm39)	missense	probably damaging	0.98
R9428:Carmil1	UTSW	13	24,295,834 (GRCm39)	nonsense	probably null
R9460:Carmil1	UTSW	13	24,253,750 (GRCm39)	missense	probably damaging	1.00
R9502:Carmil1	UTSW	13	24,323,357 (GRCm39)	missense	probably benign
R9548:Carmil1	UTSW	13	24,460,516 (GRCm39)	missense	probably damaging	1.00
X0025:Carmil1	UTSW	13	24,283,026 (GRCm39)	missense	possibly damaging	0.47
Z1088:Carmil1	UTSW	13	24,228,165 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2018-07-23