Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:Carmil1'

685168

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

068834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24196327-24464778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24225662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1042 (D1042V)

Ref Sequence

ENSEMBL: ENSMUSP00000072662 (fasta)

Gene Model

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

AlphaFold

Q6EDY6

PDB Structure

Solution structure of the CARMIL CAH3a/b domain bound to capping protein (CP) [SOLUTION NMR]
Crystal structure of Actin Capping Protein in complex with the Cp-binding motif derived from CARMIL [X-RAY DIFFRACTION]
Crystal structure of Actin capping protein in complex with CARMIL fragment [X-RAY DIFFRACTION]
Crystal Structure of mouse CARMIL residues 1-668 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072889
AA Change: D1042V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: D1042V

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 damaging
Transcript: ENSMUST00000110398
AA Change: D1038V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: D1038V

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 damaging
Transcript: ENSMUST00000125901
AA Change: D638V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: D638V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,454,197 (GRCm39)		probably benign	Het
2310057N15Rik	C	A	16: 88,570,986 (GRCm39)	C18F	probably damaging	Het
Abca7	T	A	10: 79,841,483 (GRCm39)	M941K	probably damaging	Het
Abcd2	A	G	15: 91,075,051 (GRCm39)	I254T	probably benign	Het
Abcg8	C	A	17: 85,004,790 (GRCm39)	T519K	probably benign	Het
Adcy9	A	G	16: 4,106,378 (GRCm39)	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,109,894 (GRCm39)	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,279,921 (GRCm39)	D529G	probably damaging	Het
Ascc3	T	A	10: 50,718,276 (GRCm39)	C1990S	probably benign	Het
BC034090	T	A	1: 155,102,138 (GRCm39)	N42I	possibly damaging	Het
Bptf	G	A	11: 106,945,713 (GRCm39)	P2509S	probably damaging	Het
Ccny	A	G	18: 9,332,883 (GRCm39)	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,557,722 (GRCm39)	N268D	probably benign	Het
Cep152	T	C	2: 125,453,020 (GRCm39)	S351G	probably benign	Het
Chrm1	T	C	19: 8,655,909 (GRCm39)	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,449,430 (GRCm39)	D454E	probably benign	Het
Dmbt1	T	C	7: 130,713,798 (GRCm39)	L1622P	unknown	Het
Eif2s2	A	G	2: 154,720,404 (GRCm39)	Y172H	probably benign	Het
Ell	T	A	8: 71,031,604 (GRCm39)	S101T	probably damaging	Het
Faf1	A	G	4: 109,698,550 (GRCm39)	T337A	probably benign	Het
Fhad1	A	T	4: 141,649,735 (GRCm39)		probably benign	Het
Gen1	T	C	12: 11,305,022 (GRCm39)		probably benign	Het
Gfap	A	G	11: 102,782,268 (GRCm39)	I414T	probably benign	Het
Ginm1	A	C	10: 7,651,019 (GRCm39)	V129G	probably damaging	Het
Helq	C	T	5: 100,926,598 (GRCm39)		probably benign	Het
Hoxb3	A	G	11: 96,237,137 (GRCm39)	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,045 (GRCm39)	V584A	probably damaging	Het
Iglc2	T	C	16: 19,017,425 (GRCm39)	K59R	probably benign	Het
Inhba	T	C	13: 16,201,526 (GRCm39)	S363P	probably benign	Het
Kif1c	A	G	11: 70,615,958 (GRCm39)	K656E	probably benign	Het
Mroh4	G	T	15: 74,486,171 (GRCm39)	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Naaladl1	C	A	19: 6,155,965 (GRCm39)	D46E	probably damaging	Het
Nbea	C	T	3: 55,910,359 (GRCm39)	V1279I	probably benign	Het
Nceh1	T	A	3: 27,293,726 (GRCm39)	D161E	possibly damaging	Het
Nck2	A	T	1: 43,593,510 (GRCm39)	N239I		Het
Nlrx1	C	T	9: 44,167,644 (GRCm39)	R751H	probably benign	Het
Or10ag54	T	A	2: 87,099,695 (GRCm39)	F190Y	possibly damaging	Het
Or8b46	A	G	9: 38,450,530 (GRCm39)	Y113C	probably benign	Het
Or8g17	C	A	9: 38,930,580 (GRCm39)	V86L	probably benign	Het
Oscar	A	T	7: 3,619,040 (GRCm39)	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,763,979 (GRCm39)	I511F	probably damaging	Het
Pappa2	T	C	1: 158,764,518 (GRCm39)	D331G	possibly damaging	Het
Pde4c	C	T	8: 71,199,515 (GRCm39)	S265L	possibly damaging	Het
Pex1	A	G	5: 3,662,914 (GRCm39)	S502G	probably benign	Het
Pigl	A	G	11: 62,403,779 (GRCm39)	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,799,421 (GRCm39)	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,406,768 (GRCm39)	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,008,513 (GRCm39)	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,849 (GRCm39)	Y11H	probably damaging	Het
Prss54	C	A	8: 96,292,137 (GRCm39)	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,732,687 (GRCm39)	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,608,314 (GRCm39)	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,697,771 (GRCm39)		probably benign	Het
Sdad1	T	C	5: 92,439,820 (GRCm39)	T402A	probably benign	Het
Stk32c	T	C	7: 138,702,859 (GRCm39)	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,178,109 (GRCm39)	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,704,018 (GRCm39)	E105V	probably benign	Het
Tlk1	A	G	2: 70,552,290 (GRCm39)	I520T	probably damaging	Het
Tmf1	A	G	6: 97,152,738 (GRCm39)	V445A	probably benign	Het
Tomm6	T	C	17: 47,998,833 (GRCm39)	D40G	possibly damaging	Het
Traf6	C	A	2: 101,520,443 (GRCm39)	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,670,284 (GRCm39)	H150R		Het
Ube2g2	A	T	10: 77,479,434 (GRCm39)	M126L	probably benign	Het
Unc45b	A	G	11: 82,819,515 (GRCm39)	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,580,840 (GRCm39)	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,650,624 (GRCm39)	L112F		Het
Wwc2	A	C	8: 48,373,732 (GRCm39)	L45V	probably damaging	Het
Zfp459	A	C	13: 67,556,714 (GRCm39)	I123R	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
R6684:Carmil1	UTSW	13	24,206,525 (GRCm39)	missense	unknown
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
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

PCR Primer
(F):5'- CAACAGATGTGTGGCTTGGATG -3'
(R):5'- GTTGTTGAGTGCGGCAAAAC -3'

Sequencing Primer
(F):5'- GGGACAGGTCTCACAGTTCTTC -3'
(R):5'- TTGTTGAGTGCGGCAAAACTGAAG -3'

Posted On

2021-10-11