Mutagenetix > Incidental Mutation

Incidental Mutation 'R4534:Carmil3'

333259

Institutional Source

Beutler Lab

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: 0.275) question?

Stock #

R4534 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

55728108-55745729 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

GGACGA to GGA at 55736933 bp (GRCm39)

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

probably benign
Transcript: ENSMUST00000228877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228760

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	C	T	4: 98,926,232 (GRCm39)	T454I	possibly damaging	Het
Arhgef4	T	C	1: 34,762,162 (GRCm39)	S473P	unknown	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Clstn3	C	T	6: 124,436,179 (GRCm39)	R190Q	probably damaging	Het
Dennd2b	A	T	7: 109,130,363 (GRCm39)	S879R	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnaaf5	C	T	5: 139,137,282 (GRCm39)	Q212*	probably null	Het
Efcc1	A	G	6: 87,730,133 (GRCm39)	D482G	probably null	Het
Eri2	T	C	7: 119,389,466 (GRCm39)	T151A	probably damaging	Het
Exoc4	C	T	6: 33,254,179 (GRCm39)	R112C	probably damaging	Het
Fyco1	A	G	9: 123,667,953 (GRCm39)	V91A	probably damaging	Het
Gm10320	G	A	13: 98,626,316 (GRCm39)	P23S	probably benign	Het
Hbs1l	A	G	10: 21,217,814 (GRCm39)	I240M	possibly damaging	Het
Heatr5b	T	C	17: 79,118,025 (GRCm39)	H806R	possibly damaging	Het
Herc3	T	C	6: 58,837,332 (GRCm39)	V335A	probably benign	Het
Ifi205	G	A	1: 173,845,207 (GRCm39)	P192S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna9	T	C	4: 88,510,285 (GRCm39)	H113R	possibly damaging	Het
Il17rd	T	C	14: 26,818,019 (GRCm39)	F236S	probably damaging	Het
Incenp	T	C	19: 9,861,303 (GRCm39)	N450S	unknown	Het
Jmjd8	C	T	17: 26,047,984 (GRCm39)		probably null	Het
Lhx3	C	T	2: 26,094,026 (GRCm39)	V66I	probably benign	Het
Nt5c2	C	T	19: 46,880,100 (GRCm39)	C336Y	probably damaging	Het
Ntrk2	G	A	13: 59,274,343 (GRCm39)	V740I	probably damaging	Het
Ocln	A	T	13: 100,648,112 (GRCm39)	I104N	possibly damaging	Het
Or14j8	T	C	17: 38,263,613 (GRCm39)	I101V	probably benign	Het
Or8g54	G	T	9: 39,707,296 (GRCm39)	L208F	probably benign	Het
Ppp1r3c	T	C	19: 36,711,522 (GRCm39)	K83E	probably damaging	Het
Sh3glb1	T	A	3: 144,405,624 (GRCm39)	E77D	possibly damaging	Het
Slc38a3	T	C	9: 107,533,405 (GRCm39)	N251S	probably benign	Het
Spopfm2	T	C	3: 94,083,757 (GRCm39)	Y18C	probably benign	Het
Stox2	A	T	8: 47,646,414 (GRCm39)	S287T	probably damaging	Het
Sycp2	C	A	2: 177,996,802 (GRCm39)	V1134F	probably damaging	Het
Tenm2	C	T	11: 35,953,931 (GRCm39)	S1260N	possibly damaging	Het
Tfpi2	T	C	6: 3,968,044 (GRCm39)	N32S	possibly damaging	Het
Thoc5	C	T	11: 4,874,807 (GRCm39)	R533*	probably null	Het
Ttll2	A	T	17: 7,619,120 (GRCm39)	I269N	probably benign	Het
Uchl5	C	T	1: 143,661,954 (GRCm39)	T76I	probably benign	Het
Vmn2r102	A	G	17: 19,914,975 (GRCm39)	T847A	probably benign	Het
Xpa	T	C	4: 46,185,624 (GRCm39)	N118S	probably benign	Het
Xrcc3	A	G	12: 111,770,966 (GRCm39)	L321P	probably damaging	Het
Xylt2	T	C	11: 94,557,176 (GRCm39)	D105G	probably benign	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
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
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'- GATGATGGGCCCTAAATACACG -3'
(R):5'- TACAACTGGGTGGCCTTCTTG -3'

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

Posted On

2015-08-18