Mutagenetix > Incidental Mutation

Incidental Mutation 'R9346:Carmil3'

707818

Institutional Source

Beutler Lab

Gene Symbol

Carmil3

Ensembl Gene

ENSMUSG00000022211

Gene Name

capping protein regulator and myosin 1 linker 3

Synonyms

Lrrc16b

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55728108-55745729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55732141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 213 (Y213H)

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

probably damaging
Transcript: ENSMUST00000076236
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: Y213H

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

probably damaging
Transcript: ENSMUST00000226757
AA Change: L193P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000226902

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	T	11: 58,179,095 (GRCm39)	C143F		Het
Adam8	T	C	7: 139,567,634 (GRCm39)	I370V	probably benign	Het
Adamts1	T	A	16: 85,599,420 (GRCm39)	D60V	possibly damaging	Het
Adh5	G	A	3: 138,157,203 (GRCm39)	V255I	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arid2	T	C	15: 96,185,792 (GRCm39)	I37T	probably benign	Het
Arnt2	C	T	7: 83,931,321 (GRCm39)	R383Q	probably benign	Het
Arrb1	T	A	7: 99,242,207 (GRCm39)	Y238*	probably null	Het
Brdt	T	C	5: 107,524,880 (GRCm39)	I807T	probably damaging	Het
Cacna1d	T	A	14: 29,818,880 (GRCm39)	Q1247L	possibly damaging	Het
Ccdc180	A	T	4: 45,927,953 (GRCm39)	T1163S	probably benign	Het
Cfl1	T	A	19: 5,543,641 (GRCm39)	L206Q	probably benign	Het
Chga	A	G	12: 102,525,548 (GRCm39)	D63G	probably damaging	Het
Dennd1a	T	C	2: 37,911,447 (GRCm39)	D180G	probably benign	Het
Dop1b	T	C	16: 93,577,702 (GRCm39)		probably null	Het
Fam171a2	C	T	11: 102,328,771 (GRCm39)	V663M	possibly damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Gimap9	C	A	6: 48,654,492 (GRCm39)	N26K	probably damaging	Het
Gtf2i	A	G	5: 134,273,663 (GRCm39)	F769L	probably damaging	Het
Gtf2i	G	T	5: 134,315,781 (GRCm39)	H164N	probably benign	Het
Ino80	G	A	2: 119,257,439 (GRCm39)	T797I	possibly damaging	Het
Kcnma1	T	C	14: 23,700,233 (GRCm39)	S188G	possibly damaging	Het
Krt82	A	G	15: 101,458,959 (GRCm39)	M27T	probably benign	Het
Ncam2	A	G	16: 81,252,204 (GRCm39)	K216E	probably benign	Het
Nynrin	A	G	14: 56,100,495 (GRCm39)	Q95R	probably benign	Het
Or1e1c	T	C	11: 73,266,129 (GRCm39)	S188P	probably benign	Het
Or4c102	T	A	2: 88,423,062 (GRCm39)	S305T	probably benign	Het
Pon1	C	A	6: 5,193,722 (GRCm39)	V10L	probably benign	Het
Ptk2b	T	A	14: 66,415,541 (GRCm39)	N252Y	possibly damaging	Het
Rad51	G	A	2: 118,949,093 (GRCm39)	C31Y	probably benign	Het
Sbf2	A	G	7: 109,919,946 (GRCm39)	F1525L	probably benign	Het
Sec11a	T	C	7: 80,557,760 (GRCm39)	D173G	unknown	Het
Sftpd	C	T	14: 40,896,466 (GRCm39)	R239H	probably benign	Het
Shq1	T	A	6: 100,641,431 (GRCm39)	Y150F	probably damaging	Het
Slc39a11	A	G	11: 113,414,449 (GRCm39)	V50A	probably damaging	Het
Snrnp25	A	T	11: 32,155,622 (GRCm39)	M1L	probably benign	Het
Tgm6	A	T	2: 129,983,776 (GRCm39)	K312*	probably null	Het
Tln1	C	A	4: 43,546,895 (GRCm39)	R827L	probably damaging	Het
Trim37	A	T	11: 87,057,426 (GRCm39)		probably null	Het
Zdhhc13	T	A	7: 48,472,328 (GRCm39)	N495K	probably benign	Het
Zfp280b	C	T	10: 75,875,126 (GRCm39)	T335I	possibly damaging	Het
Zfp583	T	A	7: 6,328,542 (GRCm39)	T16S	probably benign	Het
Zgpat	C	A	2: 181,021,844 (GRCm39)	D423E	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
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
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'- TCCTCTGGTCCTACACACAG -3'
(R):5'- CACGTCTTAAGCCCAGCATTG -3'

Sequencing Primer
(F):5'- GGTCCTACACACAGCCCTTG -3'
(R):5'- TTAAGCCCAGCATTGTCCAG -3'

Posted On

2022-04-18