Mutagenetix > Incidental Mutation

Incidental Mutation 'R1923:Carmil3'

213237

Institutional Source

Beutler Lab

Gene Symbol

Carmil3

Ensembl Gene

ENSMUSG00000022211

Gene Name

capping protein regulator and myosin 1 linker 3

Synonyms

Lrrc16b

MMRRC Submission

039941-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R1923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55728108-55745729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55739861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 983 (T983A)

Ref Sequence

ENSEMBL: ENSMUSP00000075587 (fasta)

Gene Model

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

AlphaFold

Q3UFQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000076236
AA Change: T983A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: T983A

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

noncoding transcript
Transcript: ENSMUST00000226653

Predicted Effect

probably benign
Transcript: ENSMUST00000226757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228760

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,743 (GRCm39)	E163G	probably damaging	Het
4921513D11Rik	A	G	17: 79,935,562 (GRCm39)		probably benign	Het
Acox3	T	A	5: 35,749,459 (GRCm39)	F195I	possibly damaging	Het
Acsl6	T	C	11: 54,216,417 (GRCm39)	Y135H	probably damaging	Het
Ankhd1	C	A	18: 36,781,083 (GRCm39)	A2045E	probably benign	Het
Ap5z1	A	G	5: 142,458,096 (GRCm39)	H423R	probably benign	Het
Arsk	T	A	13: 76,214,985 (GRCm39)		probably benign	Het
Bpi	G	A	2: 158,103,083 (GRCm39)	G76D	probably damaging	Het
Ccdc192	A	T	18: 57,666,959 (GRCm39)	D12V	probably damaging	Het
Chmp2b	A	T	16: 65,342,213 (GRCm39)	M125K	possibly damaging	Het
Clca3a2	T	A	3: 144,511,491 (GRCm39)	I26L	probably damaging	Het
Cubn	T	C	2: 13,315,337 (GRCm39)	Y3032C	probably damaging	Het
Ehbp1	T	A	11: 22,101,850 (GRCm39)	D226V	probably damaging	Het
Enpp6	A	T	8: 47,535,541 (GRCm39)	D362V	probably damaging	Het
Fam53b	A	G	7: 132,317,521 (GRCm39)	S374P	probably damaging	Het
Fmn1	T	C	2: 113,260,066 (GRCm39)		probably benign	Het
Fndc7	C	T	3: 108,784,003 (GRCm39)	R202H	probably benign	Het
Frmd4b	T	G	6: 97,265,415 (GRCm39)	D951A	probably benign	Het
Git2	A	G	5: 114,877,162 (GRCm39)	Y107H	probably damaging	Het
Gm11595	A	T	11: 99,663,365 (GRCm39)	V105E	unknown	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrriq4	C	A	3: 30,713,242 (GRCm39)	Q448K	probably benign	Het
Ly6g5c	A	G	17: 35,330,863 (GRCm39)	I128M	possibly damaging	Het
Mroh9	T	A	1: 162,903,860 (GRCm39)	S51C	probably damaging	Het
Myh3	A	G	11: 66,970,828 (GRCm39)	S2G	probably benign	Het
Nat8f4	A	G	6: 85,878,497 (GRCm39)	Y9H	probably damaging	Het
Negr1	T	C	3: 156,267,836 (GRCm39)	V2A	probably benign	Het
Or2y1	C	T	11: 49,386,131 (GRCm39)	T257I	probably damaging	Het
Or7g19	C	T	9: 18,856,781 (GRCm39)	T279I	probably benign	Het
Or8k32	T	G	2: 86,368,857 (GRCm39)	Y132S	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pdgfra	C	A	5: 75,324,394 (GRCm39)	T83K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Retreg1	A	G	15: 25,969,924 (GRCm39)	D109G	probably damaging	Het
Rgs12	T	A	5: 35,189,613 (GRCm39)	W674R	probably damaging	Het
Rgs18	T	C	1: 144,631,818 (GRCm39)	D98G	possibly damaging	Het
Rnf146	A	G	10: 29,223,715 (GRCm39)	F57S	probably damaging	Het
Skic3	T	A	13: 76,282,889 (GRCm39)	V737D	probably damaging	Het
Slc22a20	C	A	19: 6,021,464 (GRCm39)	V513L	probably benign	Het
Stox2	G	T	8: 47,646,661 (GRCm39)	F266L	probably damaging	Het
Tbx21	C	T	11: 96,990,863 (GRCm39)	V272M	probably damaging	Het
Tmc7	A	G	7: 118,144,850 (GRCm39)	F570S	probably benign	Het
Tmem236	T	C	2: 14,224,117 (GRCm39)	I302T	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm3	T	C	19: 22,862,776 (GRCm39)	L506S	probably damaging	Het
Uggt1	T	C	1: 36,218,694 (GRCm39)	I78V	probably damaging	Het
Xpo4	A	T	14: 57,828,328 (GRCm39)	V844D	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het

Other mutations in Carmil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Carmil3	APN	14	55,735,755 (GRCm39)	missense	probably damaging	0.99
IGL00498:Carmil3	APN	14	55,739,352 (GRCm39)	critical splice donor site	probably null
IGL01061:Carmil3	APN	14	55,736,087 (GRCm39)	missense	possibly damaging	0.67
IGL01452:Carmil3	APN	14	55,733,515 (GRCm39)	missense	probably damaging	0.99
IGL01606:Carmil3	APN	14	55,731,306 (GRCm39)	missense	possibly damaging	0.83
IGL01633:Carmil3	APN	14	55,731,684 (GRCm39)	missense	possibly damaging	0.84
IGL01977:Carmil3	APN	14	55,730,993 (GRCm39)	missense	probably damaging	1.00
IGL02065:Carmil3	APN	14	55,731,279 (GRCm39)	splice site	probably benign
IGL02160:Carmil3	APN	14	55,731,015 (GRCm39)	missense	possibly damaging	0.70
IGL02491:Carmil3	APN	14	55,741,974 (GRCm39)	missense	probably benign	0.00
IGL02567:Carmil3	APN	14	55,736,339 (GRCm39)	missense	possibly damaging	0.93
IGL02629:Carmil3	APN	14	55,736,525 (GRCm39)	missense	probably damaging	0.97
IGL02720:Carmil3	APN	14	55,744,867 (GRCm39)	missense	probably damaging	0.97
IGL03100:Carmil3	APN	14	55,732,175 (GRCm39)	missense	probably damaging	0.99
PIT4434001:Carmil3	UTSW	14	55,732,145 (GRCm39)	missense	probably null	1.00
R0023:Carmil3	UTSW	14	55,730,333 (GRCm39)	missense	probably damaging	1.00
R0023:Carmil3	UTSW	14	55,730,333 (GRCm39)	missense	probably damaging	1.00
R0027:Carmil3	UTSW	14	55,731,860 (GRCm39)	missense	probably damaging	0.96
R0101:Carmil3	UTSW	14	55,735,212 (GRCm39)	splice site	probably benign
R0321:Carmil3	UTSW	14	55,739,698 (GRCm39)	missense	possibly damaging	0.63
R0370:Carmil3	UTSW	14	55,732,899 (GRCm39)	missense	possibly damaging	0.82
R0465:Carmil3	UTSW	14	55,737,318 (GRCm39)	missense	probably damaging	0.99
R0647:Carmil3	UTSW	14	55,739,892 (GRCm39)	critical splice donor site	probably null
R1503:Carmil3	UTSW	14	55,735,737 (GRCm39)	missense	probably damaging	0.96
R1635:Carmil3	UTSW	14	55,733,739 (GRCm39)	missense	possibly damaging	0.91
R1715:Carmil3	UTSW	14	55,741,989 (GRCm39)	missense	probably benign	0.02
R1944:Carmil3	UTSW	14	55,736,087 (GRCm39)	missense	probably damaging	0.97
R2513:Carmil3	UTSW	14	55,741,295 (GRCm39)	missense	probably damaging	0.98
R2892:Carmil3	UTSW	14	55,735,770 (GRCm39)	missense	probably damaging	0.96
R3433:Carmil3	UTSW	14	55,745,151 (GRCm39)	missense	probably benign	0.05
R3552:Carmil3	UTSW	14	55,744,859 (GRCm39)	missense	possibly damaging	0.86
R3783:Carmil3	UTSW	14	55,734,433 (GRCm39)	missense	probably damaging	1.00
R3787:Carmil3	UTSW	14	55,734,433 (GRCm39)	missense	probably damaging	1.00
R4181:Carmil3	UTSW	14	55,741,412 (GRCm39)	missense	probably benign	0.10
R4285:Carmil3	UTSW	14	55,736,933 (GRCm39)	utr 3 prime	probably benign
R4420:Carmil3	UTSW	14	55,731,045 (GRCm39)	missense	probably damaging	0.98
R4424:Carmil3	UTSW	14	55,738,928 (GRCm39)	missense	probably benign
R4506:Carmil3	UTSW	14	55,736,933 (GRCm39)	utr 3 prime	probably benign
R4507:Carmil3	UTSW	14	55,736,933 (GRCm39)	utr 3 prime	probably benign
R4534:Carmil3	UTSW	14	55,736,933 (GRCm39)	utr 3 prime	probably benign
R4535:Carmil3	UTSW	14	55,736,933 (GRCm39)	utr 3 prime	probably benign
R4549:Carmil3	UTSW	14	55,743,121 (GRCm39)	splice site	probably null
R4574:Carmil3	UTSW	14	55,736,933 (GRCm39)	utr 3 prime	probably benign
R4783:Carmil3	UTSW	14	55,738,778 (GRCm39)	critical splice donor site	probably null
R4784:Carmil3	UTSW	14	55,738,778 (GRCm39)	critical splice donor site	probably null
R5146:Carmil3	UTSW	14	55,734,636 (GRCm39)	missense	probably benign	0.02
R5279:Carmil3	UTSW	14	55,739,028 (GRCm39)	missense	probably damaging	0.98
R5425:Carmil3	UTSW	14	55,731,334 (GRCm39)	missense	probably benign	0.41
R5530:Carmil3	UTSW	14	55,731,081 (GRCm39)	missense	probably damaging	0.98
R5534:Carmil3	UTSW	14	55,732,347 (GRCm39)	missense	probably damaging	0.97
R5598:Carmil3	UTSW	14	55,741,456 (GRCm39)	frame shift	probably null
R5772:Carmil3	UTSW	14	55,730,696 (GRCm39)	missense	probably damaging	1.00
R5896:Carmil3	UTSW	14	55,741,456 (GRCm39)	frame shift	probably null
R5931:Carmil3	UTSW	14	55,736,397 (GRCm39)	missense	probably damaging	0.99
R6048:Carmil3	UTSW	14	55,741,302 (GRCm39)	missense	probably benign	0.00
R6103:Carmil3	UTSW	14	55,742,884 (GRCm39)	missense	probably benign	0.02
R6258:Carmil3	UTSW	14	55,737,889 (GRCm39)	missense	probably damaging	1.00
R6260:Carmil3	UTSW	14	55,737,889 (GRCm39)	missense	probably damaging	1.00
R6338:Carmil3	UTSW	14	55,737,306 (GRCm39)	missense	possibly damaging	0.83
R6339:Carmil3	UTSW	14	55,737,306 (GRCm39)	missense	possibly damaging	0.83
R6646:Carmil3	UTSW	14	55,745,387 (GRCm39)	missense	probably damaging	0.97
R6936:Carmil3	UTSW	14	55,739,018 (GRCm39)	missense	probably benign	0.04
R7164:Carmil3	UTSW	14	55,738,739 (GRCm39)	missense	probably damaging	0.98
R7214:Carmil3	UTSW	14	55,736,069 (GRCm39)	missense	probably damaging	1.00
R7223:Carmil3	UTSW	14	55,733,695 (GRCm39)	missense	possibly damaging	0.48
R7269:Carmil3	UTSW	14	55,731,352 (GRCm39)	missense	probably benign	0.03
R7319:Carmil3	UTSW	14	55,731,817 (GRCm39)	missense	probably benign	0.13
R7357:Carmil3	UTSW	14	55,728,590 (GRCm39)	start gained	probably benign
R7386:Carmil3	UTSW	14	55,735,204 (GRCm39)	critical splice donor site	probably null
R7463:Carmil3	UTSW	14	55,739,853 (GRCm39)	missense	probably damaging	1.00
R7598:Carmil3	UTSW	14	55,732,278 (GRCm39)	missense	possibly damaging	0.61
R7602:Carmil3	UTSW	14	55,738,965 (GRCm39)	missense	probably null	0.00
R7617:Carmil3	UTSW	14	55,735,348 (GRCm39)	missense	probably benign	0.06
R7985:Carmil3	UTSW	14	55,734,409 (GRCm39)	missense	probably benign	0.03
R8127:Carmil3	UTSW	14	55,735,701 (GRCm39)	missense	probably damaging	0.98
R8423:Carmil3	UTSW	14	55,736,522 (GRCm39)	missense	probably damaging	1.00
R8465:Carmil3	UTSW	14	55,734,305 (GRCm39)	missense	probably damaging	1.00
R8849:Carmil3	UTSW	14	55,734,627 (GRCm39)	missense	probably benign	0.01
R8955:Carmil3	UTSW	14	55,733,534 (GRCm39)	missense	probably damaging	0.98
R9321:Carmil3	UTSW	14	55,741,425 (GRCm39)	missense
R9346:Carmil3	UTSW	14	55,732,141 (GRCm39)	missense	probably damaging	1.00
R9387:Carmil3	UTSW	14	55,731,869 (GRCm39)	nonsense	probably null
R9578:Carmil3	UTSW	14	55,741,293 (GRCm39)	critical splice acceptor site	probably null
U24488:Carmil3	UTSW	14	55,734,636 (GRCm39)	missense	probably benign	0.02
Z1088:Carmil3	UTSW	14	55,739,025 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCTCAGGACATGGAAAG -3'
(R):5'- GGCAAGACGGGTTTATCTCC -3'

Sequencing Primer
(F):5'- GCCAACTGGGAAGTTTGGG -3'
(R):5'- CCTTTTTCAGACAGGGTGGAAAAC -3'

Posted On

2014-07-14