Mutagenetix > Incidental Mutation

Incidental Mutation 'R9460:Carmil1'

714827

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24196327-24464778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24253750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 794 (C794R)

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: C794R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: C794R

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: C790R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: C790R

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: C384R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: C384R

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	C	T	17: 57,183,316 (GRCm39)	T19I	probably damaging	Het
Alg1	T	A	16: 5,060,425 (GRCm39)	M382K	probably damaging	Het
Arhgap17	A	G	7: 122,879,286 (GRCm39)	S822P	unknown	Het
Bend7	A	C	2: 4,749,302 (GRCm39)	T140P	probably benign	Het
C1rb	T	G	6: 124,557,865 (GRCm39)	D667E	probably benign	Het
Cd36	T	C	5: 18,000,608 (GRCm39)	D365G	probably null	Het
Cep164	T	C	9: 45,685,282 (GRCm39)	N825S	probably benign	Het
Cp	T	C	3: 20,018,566 (GRCm39)	L90P		Het
Cpeb2	C	T	5: 43,390,769 (GRCm39)		probably benign	Het
Cramp1	A	G	17: 25,222,281 (GRCm39)	S146P	probably damaging	Het
Csmd3	A	T	15: 47,617,130 (GRCm39)	D1019E		Het
Cyp2d10	T	A	15: 82,289,470 (GRCm39)	D214V	probably benign	Het
Dcaf17	G	C	2: 70,917,695 (GRCm39)	V406L	possibly damaging	Het
Ehmt1	A	G	2: 24,728,791 (GRCm39)	V703A	probably benign	Het
Ermp1	A	C	19: 29,609,916 (GRCm39)	V293G	probably benign	Het
Fancd2os	C	A	6: 113,574,569 (GRCm39)	V146F	probably benign	Het
Galnt12	C	T	4: 47,117,983 (GRCm39)	T426I	probably damaging	Het
Gm11011	T	A	2: 169,429,289 (GRCm39)	T44S	unknown	Het
Gm2832	C	T	14: 41,000,843 (GRCm39)	T27I		Het
Klhl32	A	G	4: 24,649,866 (GRCm39)	V310A	probably benign	Het
Kntc1	T	A	5: 123,941,378 (GRCm39)	C1728*	probably null	Het
Lama2	T	A	10: 27,298,475 (GRCm39)	N207I	probably damaging	Het
Lpar5	A	G	6: 125,058,234 (GRCm39)		probably benign	Het
Map3k8	T	C	18: 4,349,277 (GRCm39)	I14V	probably benign	Het
Marf1	A	T	16: 13,947,526 (GRCm39)	V1151E	probably damaging	Het
Me1	G	A	9: 86,495,685 (GRCm39)	A274V	probably damaging	Het
Mybpc1	A	T	10: 88,372,197 (GRCm39)	I797N	probably damaging	Het
Myo15a	T	A	11: 60,372,566 (GRCm39)		probably null	Het
N4bp2	A	T	5: 65,963,886 (GRCm39)	D645V	probably benign	Het
Nlrp4f	G	T	13: 65,342,006 (GRCm39)	D546E	possibly damaging	Het
Npc1	T	C	18: 12,346,398 (GRCm39)	D266G	possibly damaging	Het
Or4a81	G	A	2: 89,618,778 (GRCm39)	S306L	probably benign	Het
Or8k16	A	G	2: 85,520,359 (GRCm39)	I195M	probably benign	Het
Pcdha12	C	T	18: 37,153,574 (GRCm39)	R98W	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigr	T	C	1: 130,772,403 (GRCm39)	I207T	probably damaging	Het
Plxnc1	T	A	10: 94,700,895 (GRCm39)	E596D	probably benign	Het
Polr1e	C	T	4: 45,018,691 (GRCm39)	P7L	probably benign	Het
Ppp5c	G	T	7: 16,741,137 (GRCm39)	Y313*	probably null	Het
Sacs	C	A	14: 61,441,611 (GRCm39)	T1219K	probably benign	Het
Scn3a	A	G	2: 65,300,535 (GRCm39)	V1277A	probably damaging	Het
Serinc5	G	T	13: 92,844,607 (GRCm39)	A450S	possibly damaging	Het
Serinc5	T	C	13: 92,844,619 (GRCm39)	C454R	probably benign	Het
Slc12a6	G	A	2: 112,183,280 (GRCm39)	V771I	probably benign	Het
Slc4a1ap	T	C	5: 31,685,463 (GRCm39)	I247T	probably benign	Het
Snx10	T	A	6: 51,565,888 (GRCm39)	S184R	probably damaging	Het
Tgm2	A	T	2: 157,971,241 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Thsd7b	T	C	1: 130,090,674 (GRCm39)		probably null	Het
Tiam2	G	A	17: 3,487,585 (GRCm39)	G702E	probably damaging	Het
Tmco4	T	A	4: 138,747,387 (GRCm39)	V212D	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vipas39	A	G	12: 87,288,021 (GRCm39)	L482P	probably damaging	Het
Vmn1r5	T	A	6: 56,962,829 (GRCm39)	M168K		Het
Vps13c	T	C	9: 67,837,904 (GRCm39)	L1818S	possibly damaging	Het
Vwa2	A	G	19: 56,886,388 (GRCm39)	I152V	probably benign	Het
Zfp180	G	A	7: 23,804,399 (GRCm39)	G273R	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
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
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'- GTCTGTGGCTCACATACTGC -3'
(R):5'- AACGGCTGCTCTAAAGAGATTCC -3'

Sequencing Primer
(F):5'- GTGGCTCACATACTGCAGCTC -3'
(R):5'- GGCTGCTCTAAAGAGATTCCTTCAG -3'

Posted On

2022-06-15