Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Carmil1'

397321

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24196327-24464778 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 24338966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072889] [ENSMUST00000110398] [ENSMUST00000140042]

AlphaFold

Q6EDY6

Predicted Effect

probably null
Transcript: ENSMUST00000072889

SMART Domains

Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338

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 null
Transcript: ENSMUST00000110398

SMART Domains

Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338

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

noncoding transcript
Transcript: ENSMUST00000125420

Predicted Effect

probably benign
Transcript: ENSMUST00000140042

SMART Domains

Protein: ENSMUSP00000127121
Gene: ENSMUSG00000021338

Domain	Start	End	E-Value	Type
PDB:4K17\|D	1	58	3e-33	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144159

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,738,083 (GRCm39)	T435A	probably benign	Het
Adcy3	T	A	12: 4,184,438 (GRCm39)	I38N	probably damaging	Het
Aff1	A	G	5: 103,902,523 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,243,041 (GRCm39)	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,777,105 (GRCm39)	N517K	probably damaging	Het
Ccdc185	G	A	1: 182,576,564 (GRCm39)	Q42*	probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh10	A	G	15: 19,013,446 (GRCm39)	E682G	probably damaging	Het
Col6a3	C	A	1: 90,738,330 (GRCm39)	R456L	probably damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Flt4	T	C	11: 49,524,084 (GRCm39)		probably null	Het
Fstl5	A	C	3: 76,536,267 (GRCm39)	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,056,821 (GRCm39)	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854 (GRCm39)	S157R	probably benign	Het
Gzmc	G	A	14: 56,471,433 (GRCm39)	A36V	probably damaging	Het
Hexb	T	C	13: 97,318,512 (GRCm39)	N283S	probably benign	Het
Hydin	A	G	8: 111,249,774 (GRCm39)	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,657,544 (GRCm39)	Y20F	probably benign	Het
Il17re	A	G	6: 113,439,923 (GRCm39)	T181A	probably benign	Het
Kcnh6	G	A	11: 105,911,145 (GRCm39)	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,401,254 (GRCm39)	R460W	probably damaging	Het
Krtap5-2	A	T	7: 141,728,721 (GRCm39)	S320T	unknown	Het
Larp1b	G	T	3: 40,918,487 (GRCm39)	E24*	probably null	Het
Mettl22	A	G	16: 8,296,115 (GRCm39)	T135A	probably benign	Het
Mlh1	A	G	9: 111,070,581 (GRCm39)	V378A	probably benign	Het
Mmrn1	A	T	6: 60,953,474 (GRCm39)	H585L	probably benign	Het
Myh14	A	G	7: 44,278,279 (GRCm39)	F1024L	probably damaging	Het
Nbea	A	T	3: 55,926,874 (GRCm39)	H776Q	probably damaging	Het
Nod2	A	G	8: 89,390,875 (GRCm39)	D372G	possibly damaging	Het
Nptn	C	T	9: 58,526,263 (GRCm39)	R137*	probably null	Het
Or9k2	T	C	10: 129,998,430 (GRCm39)	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803 (GRCm39)	V267I	probably benign	Het
Rassf10	A	G	7: 112,553,627 (GRCm39)	D76G	probably benign	Het
Rbbp5	A	G	1: 132,418,303 (GRCm39)	T41A	possibly damaging	Het
Rttn	T	C	18: 89,031,218 (GRCm39)	V643A	possibly damaging	Het
Sbno2	C	A	10: 79,902,762 (GRCm39)	E421*	probably null	Het
Slc17a3	T	C	13: 24,026,525 (GRCm39)		probably null	Het
Slc1a6	T	A	10: 78,632,103 (GRCm39)		probably null	Het
Slco2b1	A	G	7: 99,338,220 (GRCm39)	S106P	possibly damaging	Het
Spef1	T	C	2: 131,016,511 (GRCm39)	N28S	probably damaging	Het
Srebf2	C	A	15: 82,069,603 (GRCm39)	T675N	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tbcd	T	A	11: 121,500,216 (GRCm39)	L1114H	possibly damaging	Het
Tex15	T	C	8: 34,066,420 (GRCm39)	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,413,263 (GRCm39)	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,520,402 (GRCm39)	D150G	probably benign	Het
Ttn	A	G	2: 76,693,717 (GRCm39)	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,994,027 (GRCm39)	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,908,125 (GRCm39)	E119V	probably benign	Het
Wrn	A	T	8: 33,842,100 (GRCm39)		probably null	Het
Zfp398	A	G	6: 47,842,838 (GRCm39)	I165V	probably benign	Het
Zfp850	A	T	7: 27,689,781 (GRCm39)	C142*	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
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
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'- GCTCGAGATGACTGAAGTCC -3'
(R):5'- TGCCAACAGCTGCCAGATTG -3'

Sequencing Primer
(F):5'- GTCCTGTAAATTTAATTCCCTGGTG -3'
(R):5'- CAGCTGCCAGATTGAAGCTG -3'

Posted On

2016-07-06