Mutagenetix > Incidental Mutation

Incidental Mutation 'R7642:Carmil1'

590305

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

045645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24196327-24464778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24251189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 844 (T844A)

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 benign
Transcript: ENSMUST00000072889
AA Change: T844A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: T844A

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
AA Change: T840A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: T840A

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
AA Change: T434A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: T434A

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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b1	T	C	13: 94,613,540 (GRCm39)	S680P	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clca4a	A	T	3: 144,659,512 (GRCm39)	D781E	probably benign	Het
Col10a1	A	G	10: 34,271,638 (GRCm39)	M537V	probably benign	Het
Col5a2	A	G	1: 45,415,248 (GRCm39)	M1497T	probably benign	Het
Csmd1	T	A	8: 16,135,192 (GRCm39)	I1655F	probably damaging	Het
Cts3	A	G	13: 61,716,589 (GRCm39)	S16P	probably benign	Het
Cyp2c67	T	C	19: 39,604,084 (GRCm39)	Y424C	probably damaging	Het
Dip2c	T	C	13: 9,672,741 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,248,125 (GRCm39)		probably null	Het
Dpp4	A	G	2: 62,190,627 (GRCm39)		probably null	Het
Fam135b	T	G	15: 71,350,991 (GRCm39)	N295T	possibly damaging	Het
Fign	A	G	2: 63,810,916 (GRCm39)	V118A	probably benign	Het
Gpr108	A	T	17: 57,543,228 (GRCm39)	Y480*	probably null	Het
Ky	T	C	9: 102,419,469 (GRCm39)	V492A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lrrc30	C	T	17: 67,939,472 (GRCm39)	G36E	probably damaging	Het
Map2	T	C	1: 66,452,466 (GRCm39)	V452A	probably benign	Het
Mks1	C	T	11: 87,747,666 (GRCm39)	T183M	possibly damaging	Het
Mpg	G	A	11: 32,179,517 (GRCm39)		probably null	Het
Nat10	A	G	2: 103,557,131 (GRCm39)	L841P	possibly damaging	Het
Nbeal1	A	G	1: 60,316,386 (GRCm39)	E1863G	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nr2e3	T	A	9: 59,854,671 (GRCm39)	I292F	possibly damaging	Het
Nxn	T	C	11: 76,163,285 (GRCm39)	Y246C	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or4f4b	T	C	2: 111,313,823 (GRCm39)	F44S	probably damaging	Het
Or5ac15	T	G	16: 58,940,011 (GRCm39)	T141P	possibly damaging	Het
Or5h26	A	G	16: 58,988,080 (GRCm39)	V142A	probably benign	Het
Or8k17	A	T	2: 86,066,660 (GRCm39)	L166*	probably null	Het
Pcdha5	T	A	18: 37,093,544 (GRCm39)	F18I	probably benign	Het
Pcdhb17	A	G	18: 37,618,779 (GRCm39)	K190E	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ppm1g	G	T	5: 31,362,447 (GRCm39)	Y284*	probably null	Het
Rp1	A	G	1: 4,218,054 (GRCm39)	V1026A	unknown	Het
Scap	C	T	9: 110,203,081 (GRCm39)	R252C	probably damaging	Het
Scn9a	C	A	2: 66,366,580 (GRCm39)	K734N	probably benign	Het
Sema5a	C	T	15: 32,682,471 (GRCm39)	S955F	probably damaging	Het
Serpinb10	A	G	1: 107,456,831 (GRCm39)		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh2d5	A	G	4: 137,986,467 (GRCm39)	T397A	probably benign	Het
Slc22a8	T	C	19: 8,587,409 (GRCm39)	F490L	probably benign	Het
Tbc1d19	A	T	5: 54,014,260 (GRCm39)	Y296F	probably damaging	Het
Tmppe	T	C	9: 114,233,862 (GRCm39)	S54P	possibly damaging	Het
Vmn1r123	A	T	7: 20,896,795 (GRCm39)	N229I	probably benign	Het
Wdr36	T	A	18: 32,987,624 (GRCm39)		probably null	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Wscd2	A	T	5: 113,715,475 (GRCm39)	K438N	possibly damaging	Het
Xrcc6	T	A	15: 81,900,678 (GRCm39)		probably null	Het
Xrn1	T	A	9: 95,903,906 (GRCm39)	F1148I	possibly damaging	Het
Zmynd8	T	C	2: 165,654,346 (GRCm39)	D722G	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
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

PCR Primer
(F):5'- CCTATCAATCATGCTGAGAGAAGAC -3'
(R):5'- TTGACAATGGGCGCCTGATC -3'

Sequencing Primer
(F):5'- TCATGCTGAGAGAAGACAGAAAAG -3'
(R):5'- ACTTTGGAGGAATCCTTAGTCC -3'

Posted On

2019-10-24