Mutagenetix > Incidental Mutation

Incidental Mutation 'R0085:Carmil1'

102577

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

038372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24196327-24464778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24209850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 804 (E804D)

Ref Sequence

ENSEMBL: ENSMUSP00000126522 (fasta)

Gene Model

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

AlphaFold

Q6EDY6

Predicted Effect

probably benign
Transcript: ENSMUST00000072889
AA Change: E1208D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: E1208D

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: E1204D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: E1204D

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: E804D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: E804D

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

probably benign
Transcript: ENSMUST00000151566

SMART Domains

Protein: ENSMUSP00000120971
Gene: ENSMUSG00000021338

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

95% (71/75)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,742,357 (GRCm39)	I417T	possibly damaging	Het
Adcy9	T	C	16: 4,106,088 (GRCm39)	T1009A	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Baat	T	C	4: 49,490,425 (GRCm39)		probably benign	Het
Bpi	T	A	2: 158,115,072 (GRCm39)	L311*	probably null	Het
Brd2	A	C	17: 34,332,233 (GRCm39)	F294L	probably damaging	Het
Cd209g	A	T	8: 4,184,785 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,668,635 (GRCm39)	I554V	probably benign	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Dst	T	C	1: 34,268,268 (GRCm39)	S2897P	probably damaging	Het
Efcab7	T	C	4: 99,761,877 (GRCm39)		probably benign	Het
Fbxo2	T	C	4: 148,249,367 (GRCm39)		probably null	Het
Fgfr2	C	A	7: 129,797,993 (GRCm39)	R400L	probably damaging	Het
Hsd17b14	T	C	7: 45,205,834 (GRCm39)		probably benign	Het
Il23r	T	C	6: 67,463,206 (GRCm39)	N96D	probably damaging	Het
Ints13	T	A	6: 146,476,285 (GRCm39)		probably benign	Het
Khdc4	T	A	3: 88,619,046 (GRCm39)	S583R	probably damaging	Het
Lig1	A	G	7: 13,041,495 (GRCm39)	I776V	possibly damaging	Het
Madd	T	C	2: 90,993,083 (GRCm39)	I997V	probably benign	Het
Mgat4b	C	T	11: 50,121,826 (GRCm39)	H116Y	possibly damaging	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo5b	A	C	18: 74,834,751 (GRCm39)	D937A	probably benign	Het
Nox3	T	C	17: 3,685,556 (GRCm39)	N584S	probably benign	Het
Ogfr	A	G	2: 180,232,830 (GRCm39)		probably null	Het
Or11g25	T	A	14: 50,723,791 (GRCm39)	M292K	probably benign	Het
Or13p3	T	C	4: 118,567,078 (GRCm39)	V158A	probably benign	Het
Or8b1b	T	C	9: 38,375,958 (GRCm39)	I207T	probably benign	Het
Osbpl6	G	T	2: 76,423,758 (GRCm39)	V728F	probably benign	Het
Picalm	T	A	7: 89,831,525 (GRCm39)	S453T	probably benign	Het
Piezo1	A	G	8: 123,228,354 (GRCm39)	L310P	probably damaging	Het
Pitrm1	C	T	13: 6,599,604 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,805,197 (GRCm39)	F3250L	probably damaging	Het
Plekha4	C	T	7: 45,193,373 (GRCm39)	R376*	probably null	Het
Pnma8b	A	T	7: 16,679,474 (GRCm39)	S153C	unknown	Het
Rp1l1	C	T	14: 64,259,744 (GRCm39)	R129W	probably damaging	Het
Ryr3	A	G	2: 112,690,108 (GRCm39)	V1147A	probably damaging	Het
Sema3d	G	A	5: 12,620,953 (GRCm39)	V520I	probably benign	Het
Sgsm1	A	G	5: 113,427,136 (GRCm39)		probably benign	Het
Slc13a2	A	G	11: 78,297,694 (GRCm39)	V58A	probably damaging	Het
Slc1a4	A	G	11: 20,254,510 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,074,690 (GRCm39)		probably benign	Het
Tab1	G	T	15: 80,040,094 (GRCm39)	A305S	probably benign	Het
Tmem30a	T	A	9: 79,678,576 (GRCm39)	T327S	probably benign	Het
Tpr	A	C	1: 150,293,164 (GRCm39)	E863A	possibly damaging	Het
Upk3bl	A	G	5: 136,088,969 (GRCm39)	N161D	probably benign	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Wdfy4	C	A	14: 32,800,200 (GRCm39)	R1975S	possibly damaging	Het
Zbtb18	C	T	1: 177,275,501 (GRCm39)	A287V	probably benign	Het
Zfp712	T	C	13: 67,189,256 (GRCm39)	T424A	probably benign	Het
Zfp791	G	T	8: 85,838,862 (GRCm39)	Y56*	probably null	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
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
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'- TCATACCCAGAATGCCCACAATTTAGG -3'
(R):5'- CTGAGTGCAGGAGCCATTATCTGTC -3'

Sequencing Primer
(F):5'- AGAAAAGGTAGGGAtgtgtgtg -3'
(R):5'- GCTCGGCAATGATGTCATCT -3'

Posted On

2014-01-15