Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Carmil3'

93636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Carmil3

Ensembl Gene

ENSMUSG00000022211

Gene Name

capping protein regulator and myosin 1 linker 3

Synonyms

Lrrc16b

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

55728108-55745729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55731684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 170 (H170L)

Ref Sequence

ENSEMBL: ENSMUSP00000075587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022821] [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]

AlphaFold

Q3UFQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000022821

SMART Domains

Protein: ENSMUSP00000022821
Gene: ENSMUSG00000022210

Domain	Start	End	E-Value	Type
Pfam:adh_short	34	229	7.8e-54	PFAM
Pfam:KR	35	210	8.4e-14	PFAM
Pfam:adh_short_C2	39	276	7.9e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076236
AA Change: H170L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: H170L

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

probably benign
Transcript: ENSMUST00000226757
AA Change: H170L

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000226902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227542

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,334,406 (GRCm39)	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,616,327 (GRCm39)	W923*	probably null	Het
Abca8b	A	G	11: 109,827,580 (GRCm39)	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,498,163 (GRCm39)	F729S	probably damaging	Het
Acacb	T	C	5: 114,356,919 (GRCm39)		probably benign	Het
Aldh3a2	A	G	11: 61,139,731 (GRCm39)	L467P	probably benign	Het
Appl1	T	C	14: 26,684,795 (GRCm39)	T85A	probably damaging	Het
Aspm	T	A	1: 139,408,574 (GRCm39)	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,159,290 (GRCm39)	V23I	probably benign	Het
C2cd2	T	A	16: 97,676,323 (GRCm39)		probably benign	Het
Ccdc141	C	T	2: 76,919,593 (GRCm39)	V305I	probably benign	Het
Ccdc174	G	A	6: 91,857,343 (GRCm39)		probably null	Het
Cep126	T	G	9: 8,103,320 (GRCm39)	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,655,859 (GRCm39)	I188T	probably benign	Het
Depdc5	T	C	5: 33,081,544 (GRCm39)	S569P	probably damaging	Het
Drc1	G	A	5: 30,503,007 (GRCm39)	E177K	probably damaging	Het
Duox1	A	G	2: 122,164,279 (GRCm39)	E913G	probably benign	Het
Fbxw9	T	C	8: 85,791,055 (GRCm39)	S241P	probably damaging	Het
Fez2	C	A	17: 78,712,147 (GRCm39)		probably benign	Het
Fga	G	T	3: 82,937,606 (GRCm39)	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,320,533 (GRCm39)	G293*	probably null	Het
Gfra1	C	T	19: 58,255,479 (GRCm39)	E318K	probably benign	Het
Gli3	C	T	13: 15,823,219 (GRCm39)	P314S	probably damaging	Het
Gm5114	A	T	7: 39,057,490 (GRCm39)	S710T	probably benign	Het
Gpr141	T	C	13: 19,936,769 (GRCm39)	D2G	probably benign	Het
Inppl1	G	A	7: 101,483,041 (GRCm39)	Q63*	probably null	Het
Lrrc73	T	A	17: 46,566,657 (GRCm39)	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,824,615 (GRCm39)	R304Q	probably benign	Het
Macf1	T	C	4: 123,395,964 (GRCm39)	D788G	probably damaging	Het
Nbas	T	A	12: 13,533,898 (GRCm39)	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,382,161 (GRCm39)	F73L	probably damaging	Het
Osmr	A	T	15: 6,854,085 (GRCm39)	I541N	probably damaging	Het
Phrf1	A	G	7: 140,840,413 (GRCm39)	I1203V	probably benign	Het
Pram1	C	A	17: 33,861,109 (GRCm39)	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,379,444 (GRCm39)	Y415H	probably benign	Het
Prss27	A	T	17: 24,264,650 (GRCm39)	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,510,989 (GRCm39)	S287G	probably benign	Het
Ptprq	T	C	10: 107,535,584 (GRCm39)		probably benign	Het
Sars2	A	G	7: 28,446,974 (GRCm39)	K218E	probably benign	Het
Senp6	G	T	9: 79,999,676 (GRCm39)	S31I	probably damaging	Het
Shld2	G	T	14: 33,971,136 (GRCm39)	T31K	probably damaging	Het
Skint6	C	A	4: 113,095,246 (GRCm39)	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,685,128 (GRCm39)	H168N	probably damaging	Het
Tbx15	T	G	3: 99,220,358 (GRCm39)	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,959,125 (GRCm39)	N103D	probably benign	Het
Tmc5	A	G	7: 118,222,809 (GRCm39)	N170D	probably damaging	Het
Tmem108	A	T	9: 103,361,950 (GRCm39)	N545K	probably benign	Het
Trub1	A	G	19: 57,441,616 (GRCm39)	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,302,923 (GRCm39)	Y299N	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
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
R1923:Carmil3	UTSW	14	55,739,861 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-12-09