Mutagenetix > Incidental Mutation

Incidental Mutation 'R8722:Carmil1'

662185

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

068572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8722 (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 24220568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1052 (D1052G)

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: D1052G

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: D1052G

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

possibly damaging
Transcript: ENSMUST00000110398
AA Change: D1048G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: D1048G

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

possibly damaging
Transcript: ENSMUST00000125901
AA Change: D648G

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: D648G

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (54/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 103,823,101 (GRCm39)	C61R	probably benign	Het
4933427D14Rik	A	G	11: 72,080,422 (GRCm39)	F415L	probably benign	Het
Abcc2	G	A	19: 43,825,052 (GRCm39)	G1446D	possibly damaging	Het
Acaca	A	T	11: 84,229,283 (GRCm39)	E1703D	possibly damaging	Het
Acap3	T	C	4: 155,990,415 (GRCm39)	*834Q	probably null	Het
Adam22	A	G	5: 8,166,554 (GRCm39)	S726P	probably benign	Het
Adamtsl3	T	C	7: 82,244,745 (GRCm39)		probably null	Het
Adgrg6	T	A	10: 14,296,188 (GRCm39)	I1071F	probably benign	Het
Agxt2	A	T	15: 10,373,825 (GRCm39)	D77V	probably benign	Het
Ahnak	C	A	19: 8,990,710 (GRCm39)	S3998*	probably null	Het
Asns	T	A	6: 7,676,085 (GRCm39)	I462F	probably damaging	Het
Barx2	G	C	9: 31,824,280 (GRCm39)	C36W	probably damaging	Het
Bnc2	A	G	4: 84,211,883 (GRCm39)	V162A	possibly damaging	Het
Bptf	A	G	11: 107,022,295 (GRCm39)	S152P	unknown	Het
Brpf3	T	C	17: 29,029,510 (GRCm39)	L490P	probably benign	Het
Ccn1	T	A	3: 145,354,584 (GRCm39)	N109I	probably damaging	Het
Cdk17	A	G	10: 93,064,565 (GRCm39)	H311R	probably damaging	Het
Cenpj	G	A	14: 56,772,975 (GRCm39)	R1022C	probably damaging	Het
Cog5	A	G	12: 31,969,703 (GRCm39)	D741G	possibly damaging	Het
Csmd2	T	A	4: 128,445,743 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,961,283 (GRCm39)	Q2568*	probably null	Het
Dspp	A	G	5: 104,326,433 (GRCm39)	D932G	unknown	Het
Dtwd2	T	C	18: 49,833,385 (GRCm39)	T223A	probably damaging	Het
Fzd8	A	G	18: 9,213,686 (GRCm39)	N256S	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm9936	T	C	5: 114,995,515 (GRCm39)	Y34C	unknown	Het
Gstcd	T	A	3: 132,777,822 (GRCm39)	K330*	probably null	Het
Igf2bp1	A	G	11: 95,861,606 (GRCm39)	V277A	possibly damaging	Het
Kidins220	G	A	12: 25,051,593 (GRCm39)	V332I	probably benign	Het
Kif24	T	C	4: 41,394,233 (GRCm39)	H1014R	probably benign	Het
Lrrc43	T	C	5: 123,646,142 (GRCm39)	Y639H	possibly damaging	Het
Med22	T	C	2: 26,800,313 (GRCm39)	T39A	probably benign	Het
Morn3	T	C	5: 123,179,177 (GRCm39)	Y91C	probably damaging	Het
Myo1a	T	C	10: 127,542,707 (GRCm39)	M115T	probably damaging	Het
Or10w3	T	C	19: 13,704,033 (GRCm39)	M136T	possibly damaging	Het
Or1e32	T	A	11: 73,705,882 (GRCm39)	I9F	probably benign	Het
Or52n2b	C	T	7: 104,565,708 (GRCm39)	R265H	probably benign	Het
Pdcl	T	C	2: 37,247,317 (GRCm39)	D24G	probably benign	Het
Pde10a	G	A	17: 9,163,772 (GRCm39)	C250Y	probably benign	Het
Pla2g10	A	T	16: 13,548,254 (GRCm39)	L8M	unknown	Het
Plch2	A	T	4: 155,069,860 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,055,894 (GRCm39)	K198R	probably benign	Het
Prlh	G	T	1: 90,880,897 (GRCm39)	R23L	possibly damaging	Het
Ranbp2	C	A	10: 58,312,049 (GRCm39)	T923K	probably damaging	Het
Rps11	T	C	7: 44,772,616 (GRCm39)	N65S	probably benign	Het
Ryr3	T	C	2: 112,603,116 (GRCm39)	T2463A	probably benign	Het
Shank2	C	T	7: 143,729,485 (GRCm39)		probably benign	Het
Slc12a1	T	A	2: 125,002,518 (GRCm39)	V166E	probably damaging	Het
Slc6a9	C	T	4: 117,714,452 (GRCm39)	R97C	unknown	Het
Slpi	A	C	2: 164,197,975 (GRCm39)	M1R	probably null	Het
Syne2	T	A	12: 75,972,095 (GRCm39)	V994D	probably benign	Het
Tacc3	T	C	5: 33,825,553 (GRCm39)	Y435H	probably damaging	Het
Tpgs2	T	A	18: 25,274,679 (GRCm39)	Q132L	probably benign	Het
Usp13	T	A	3: 32,956,114 (GRCm39)	I462N	probably benign	Het
Zfp281	C	T	1: 136,553,334 (GRCm39)	A104V	probably benign	Het
Zfp40	A	G	17: 23,395,157 (GRCm39)	C477R	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
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'- AATCTCTTCTGTGCGGTCTG -3'
(R):5'- ACTCATAGTCTGTGCGTTTCG -3'

Sequencing Primer
(F):5'- CGGTCTGGAGCACCATTGTG -3'
(R):5'- CCTCTTTGGTAGCTGTGCCG -3'

Posted On

2021-03-08