Mutagenetix > Incidental Mutation

Incidental Mutation 'R4506:Carmil3'

332032

Institutional Source

Beutler Lab

Gene Symbol

Carmil3

Ensembl Gene

ENSMUSG00000022211

Gene Name

capping protein regulator and myosin 1 linker 3

Synonyms

Lrrc16b

MMRRC Submission

041584-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R4506 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

55490651-55508272 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

GGACGA to GGA at 55499476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]

AlphaFold

Q3UFQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000076236

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

Domain	Start	End	E-Value	Type
low complexity region	138	151	N/A	INTRINSIC
internal_repeat_1	203	297	7.56e-6	PROSPERO
Blast:LRR	333	362	5e-10	BLAST
Blast:LRR	423	446	1e-5	BLAST
low complexity region	447	462	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC
internal_repeat_1	496	593	7.56e-6	PROSPERO
Pfam:CARMIL_C	778	1065	5.3e-76	PFAM
low complexity region	1068	1117	N/A	INTRINSIC
low complexity region	1137	1146	N/A	INTRINSIC
low complexity region	1204	1216	N/A	INTRINSIC
low complexity region	1318	1329	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226388

Predicted Effect

probably benign
Transcript: ENSMUST00000226446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226653

Predicted Effect

probably benign
Transcript: ENSMUST00000226757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228760

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,261 (GRCm38)	P137T	probably damaging	Het
Abcc5	A	T	16: 20,333,695 (GRCm38)	I1367N	probably damaging	Het
Ace	T	A	11: 105,976,666 (GRCm38)	L152Q	probably damaging	Het
Adam19	G	A	11: 46,118,444 (GRCm38)	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,835,730 (GRCm38)	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,073,761 (GRCm38)	V96A	probably damaging	Het
Atr	T	A	9: 95,865,237 (GRCm38)	C191S	probably benign	Het
Cnot6l	A	T	5: 96,086,174 (GRCm38)	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,688,603 (GRCm38)		probably null	Het
Fgfr3	A	G	5: 33,729,999 (GRCm38)	T221A	probably damaging	Het
Gm6632	C	T	5: 59,054,478 (GRCm38)		noncoding transcript	Het
Gm8909	A	T	17: 36,161,480 (GRCm38)		probably benign	Het
Gpr158	T	A	2: 21,826,999 (GRCm38)	M970K	probably damaging	Het
Ip6k3	A	T	17: 27,145,180 (GRCm38)	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,432,686 (GRCm38)	D1727G	probably damaging	Het
Kdm2b	T	C	5: 122,888,625 (GRCm38)	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,246,256 (GRCm38)		probably benign	Het
Map3k13	A	G	16: 21,922,178 (GRCm38)	S752G	probably benign	Het
Mvb12a	G	T	8: 71,543,459 (GRCm38)	A86S	probably benign	Het
Nktr	T	A	9: 121,748,883 (GRCm38)		probably benign	Het
Olfr160	C	T	9: 37,711,464 (GRCm38)	V272I	probably benign	Het
Olfr393	A	T	11: 73,847,695 (GRCm38)	C143*	probably null	Het
Parp4	T	A	14: 56,652,304 (GRCm38)	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,816,763 (GRCm38)	V411L	probably damaging	Het
Piwil4	T	C	9: 14,725,963 (GRCm38)	T352A	probably damaging	Het
Ric8a	A	G	7: 140,858,516 (GRCm38)	I223V	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm38)	V141M	probably benign	Het
Slc7a5	A	T	8: 121,887,495 (GRCm38)		probably null	Het
Slc7a9	A	T	7: 35,453,420 (GRCm38)	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,654,395 (GRCm38)	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,417,174 (GRCm38)	S145P	probably damaging	Het
Tomm34	C	A	2: 164,054,372 (GRCm38)		probably null	Het
Trpv3	A	G	11: 73,295,324 (GRCm38)	N647S	probably benign	Het
Upf1	G	A	8: 70,337,566 (GRCm38)	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,702,925 (GRCm38)	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,308,819 (GRCm38)	V137M	probably damaging	Het
Zfp276	G	A	8: 123,264,927 (GRCm38)		probably null	Het
Zfp90	C	T	8: 106,424,864 (GRCm38)	P403L	possibly damaging	Het

Other mutations in Carmil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Carmil3	APN	14	55,498,298 (GRCm38)	missense	probably damaging	0.99
IGL00498:Carmil3	APN	14	55,501,895 (GRCm38)	critical splice donor site	probably null
IGL01061:Carmil3	APN	14	55,498,630 (GRCm38)	missense	possibly damaging	0.67
IGL01452:Carmil3	APN	14	55,496,058 (GRCm38)	missense	probably damaging	0.99
IGL01606:Carmil3	APN	14	55,493,849 (GRCm38)	missense	possibly damaging	0.83
IGL01633:Carmil3	APN	14	55,494,227 (GRCm38)	missense	possibly damaging	0.84
IGL01977:Carmil3	APN	14	55,493,536 (GRCm38)	missense	probably damaging	1.00
IGL02065:Carmil3	APN	14	55,493,822 (GRCm38)	splice site	probably benign
IGL02160:Carmil3	APN	14	55,493,558 (GRCm38)	missense	possibly damaging	0.70
IGL02491:Carmil3	APN	14	55,504,517 (GRCm38)	missense	probably benign	0.00
IGL02567:Carmil3	APN	14	55,498,882 (GRCm38)	missense	possibly damaging	0.93
IGL02629:Carmil3	APN	14	55,499,068 (GRCm38)	missense	probably damaging	0.97
IGL02720:Carmil3	APN	14	55,507,410 (GRCm38)	missense	probably damaging	0.97
IGL03100:Carmil3	APN	14	55,494,718 (GRCm38)	missense	probably damaging	0.99
PIT4434001:Carmil3	UTSW	14	55,494,688 (GRCm38)	missense	probably null	1.00
R0023:Carmil3	UTSW	14	55,492,876 (GRCm38)	missense	probably damaging	1.00
R0023:Carmil3	UTSW	14	55,492,876 (GRCm38)	missense	probably damaging	1.00
R0027:Carmil3	UTSW	14	55,494,403 (GRCm38)	missense	probably damaging	0.96
R0101:Carmil3	UTSW	14	55,497,755 (GRCm38)	splice site	probably benign
R0321:Carmil3	UTSW	14	55,502,241 (GRCm38)	missense	possibly damaging	0.63
R0370:Carmil3	UTSW	14	55,495,442 (GRCm38)	missense	possibly damaging	0.82
R0465:Carmil3	UTSW	14	55,499,861 (GRCm38)	missense	probably damaging	0.99
R0647:Carmil3	UTSW	14	55,502,435 (GRCm38)	critical splice donor site	probably null
R1503:Carmil3	UTSW	14	55,498,280 (GRCm38)	missense	probably damaging	0.96
R1635:Carmil3	UTSW	14	55,496,282 (GRCm38)	missense	possibly damaging	0.91
R1715:Carmil3	UTSW	14	55,504,532 (GRCm38)	missense	probably benign	0.02
R1923:Carmil3	UTSW	14	55,502,404 (GRCm38)	missense	probably damaging	0.99
R1944:Carmil3	UTSW	14	55,498,630 (GRCm38)	missense	probably damaging	0.97
R2513:Carmil3	UTSW	14	55,503,838 (GRCm38)	missense	probably damaging	0.98
R2892:Carmil3	UTSW	14	55,498,313 (GRCm38)	missense	probably damaging	0.96
R3433:Carmil3	UTSW	14	55,507,694 (GRCm38)	missense	probably benign	0.05
R3552:Carmil3	UTSW	14	55,507,402 (GRCm38)	missense	possibly damaging	0.86
R3783:Carmil3	UTSW	14	55,496,976 (GRCm38)	missense	probably damaging	1.00
R3787:Carmil3	UTSW	14	55,496,976 (GRCm38)	missense	probably damaging	1.00
R4181:Carmil3	UTSW	14	55,503,955 (GRCm38)	missense	probably benign	0.10
R4285:Carmil3	UTSW	14	55,499,476 (GRCm38)	utr 3 prime	probably benign
R4420:Carmil3	UTSW	14	55,493,588 (GRCm38)	missense	probably damaging	0.98
R4424:Carmil3	UTSW	14	55,501,471 (GRCm38)	missense	probably benign
R4507:Carmil3	UTSW	14	55,499,476 (GRCm38)	utr 3 prime	probably benign
R4534:Carmil3	UTSW	14	55,499,476 (GRCm38)	utr 3 prime	probably benign
R4535:Carmil3	UTSW	14	55,499,476 (GRCm38)	utr 3 prime	probably benign
R4549:Carmil3	UTSW	14	55,505,664 (GRCm38)	splice site	probably null
R4574:Carmil3	UTSW	14	55,499,476 (GRCm38)	utr 3 prime	probably benign
R4783:Carmil3	UTSW	14	55,501,321 (GRCm38)	critical splice donor site	probably null
R4784:Carmil3	UTSW	14	55,501,321 (GRCm38)	critical splice donor site	probably null
R5146:Carmil3	UTSW	14	55,497,179 (GRCm38)	missense	probably benign	0.02
R5279:Carmil3	UTSW	14	55,501,571 (GRCm38)	missense	probably damaging	0.98
R5425:Carmil3	UTSW	14	55,493,877 (GRCm38)	missense	probably benign	0.41
R5530:Carmil3	UTSW	14	55,493,624 (GRCm38)	missense	probably damaging	0.98
R5534:Carmil3	UTSW	14	55,494,890 (GRCm38)	missense	probably damaging	0.97
R5598:Carmil3	UTSW	14	55,503,999 (GRCm38)	frame shift	probably null
R5772:Carmil3	UTSW	14	55,493,239 (GRCm38)	missense	probably damaging	1.00
R5896:Carmil3	UTSW	14	55,503,999 (GRCm38)	frame shift	probably null
R5931:Carmil3	UTSW	14	55,498,940 (GRCm38)	missense	probably damaging	0.99
R6048:Carmil3	UTSW	14	55,503,845 (GRCm38)	missense	probably benign	0.00
R6103:Carmil3	UTSW	14	55,505,427 (GRCm38)	missense	probably benign	0.02
R6258:Carmil3	UTSW	14	55,500,432 (GRCm38)	missense	probably damaging	1.00
R6260:Carmil3	UTSW	14	55,500,432 (GRCm38)	missense	probably damaging	1.00
R6338:Carmil3	UTSW	14	55,499,849 (GRCm38)	missense	possibly damaging	0.83
R6339:Carmil3	UTSW	14	55,499,849 (GRCm38)	missense	possibly damaging	0.83
R6646:Carmil3	UTSW	14	55,507,930 (GRCm38)	missense	probably damaging	0.97
R6936:Carmil3	UTSW	14	55,501,561 (GRCm38)	missense	probably benign	0.04
R7164:Carmil3	UTSW	14	55,501,282 (GRCm38)	missense	probably damaging	0.98
R7214:Carmil3	UTSW	14	55,498,612 (GRCm38)	missense	probably damaging	1.00
R7223:Carmil3	UTSW	14	55,496,238 (GRCm38)	missense	possibly damaging	0.48
R7269:Carmil3	UTSW	14	55,493,895 (GRCm38)	missense	probably benign	0.03
R7319:Carmil3	UTSW	14	55,494,360 (GRCm38)	missense	probably benign	0.13
R7357:Carmil3	UTSW	14	55,491,133 (GRCm38)	start gained	probably benign
R7386:Carmil3	UTSW	14	55,497,747 (GRCm38)	critical splice donor site	probably null
R7463:Carmil3	UTSW	14	55,502,396 (GRCm38)	missense	probably damaging	1.00
R7598:Carmil3	UTSW	14	55,494,821 (GRCm38)	missense	possibly damaging	0.61
R7602:Carmil3	UTSW	14	55,501,508 (GRCm38)	missense	probably null	0.00
R7617:Carmil3	UTSW	14	55,497,891 (GRCm38)	missense	probably benign	0.06
R7985:Carmil3	UTSW	14	55,496,952 (GRCm38)	missense	probably benign	0.03
R8127:Carmil3	UTSW	14	55,498,244 (GRCm38)	missense	probably damaging	0.98
R8423:Carmil3	UTSW	14	55,499,065 (GRCm38)	missense	probably damaging	1.00
R8465:Carmil3	UTSW	14	55,496,848 (GRCm38)	missense	probably damaging	1.00
R8849:Carmil3	UTSW	14	55,497,170 (GRCm38)	missense	probably benign	0.01
R8955:Carmil3	UTSW	14	55,496,077 (GRCm38)	missense	probably damaging	0.98
R9321:Carmil3	UTSW	14	55,503,968 (GRCm38)	missense
R9346:Carmil3	UTSW	14	55,494,684 (GRCm38)	missense	probably damaging	1.00
R9387:Carmil3	UTSW	14	55,494,412 (GRCm38)	nonsense	probably null
R9578:Carmil3	UTSW	14	55,503,836 (GRCm38)	critical splice acceptor site	probably null
U24488:Carmil3	UTSW	14	55,497,179 (GRCm38)	missense	probably benign	0.02
Z1088:Carmil3	UTSW	14	55,501,568 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGATGGGCCCTAAATACAC -3'
(R):5'- ACAACTGGGTGGCCTTCTTG -3'

Sequencing Primer
(F):5'- TACAGAGCATTCCAGGGGCTC -3'
(R):5'- GGCTTTCCAGATTGTAGGGAAG -3'

Posted On

2015-07-21