Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Carmil3'

578583

Institutional Source

Beutler Lab

Gene Symbol

Carmil3

Ensembl Gene

ENSMUSG00000022211

Gene Name

capping protein regulator and myosin 1 linker 3

Synonyms

Lrrc16b

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

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

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55728108-55745729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55739853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 980 (P980L)

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: P980L

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

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: P980L

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 benign
Transcript: ENSMUST00000226757

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,698 (GRCm39)	V435E	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy2	T	C	13: 68,878,399 (GRCm39)	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,310,140 (GRCm39)	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,583,452 (GRCm39)	Q309*	probably null	Het
Amy1	A	T	3: 113,363,533 (GRCm39)	C43*	probably null	Het
Bpifc	T	C	10: 85,815,198 (GRCm39)	E256G	probably benign	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Coch	T	A	12: 51,640,408 (GRCm39)	M1K	probably null	Het
Cpt2	A	T	4: 107,765,354 (GRCm39)	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094 (GRCm39)	I112V	probably benign	Het
Cul9	A	G	17: 46,831,402 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,650,374 (GRCm39)	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,769,761 (GRCm39)	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,540,026 (GRCm39)	E318G	probably damaging	Het
Dip2b	A	G	15: 100,052,038 (GRCm39)	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316 (GRCm39)	H238R	probably damaging	Het
Dnai2	A	C	11: 114,645,232 (GRCm39)	I556L	probably benign	Het
Dnmt1	C	T	9: 20,823,521 (GRCm39)	V1147M	possibly damaging	Het
Egf	G	T	3: 129,533,664 (GRCm39)	Q59K	probably benign	Het
Ermp1	A	T	19: 29,623,662 (GRCm39)	Y109*	probably null	Het
Fer1l6	T	A	15: 58,445,450 (GRCm39)	Y573*	probably null	Het
Fmnl1	T	C	11: 103,083,954 (GRCm39)	L503P	probably damaging	Het
Gnptab	T	G	10: 88,267,251 (GRCm39)	I447M	probably damaging	Het
Hgf	G	A	5: 16,783,448 (GRCm39)	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Igf2r	T	C	17: 12,929,532 (GRCm39)	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,497 (GRCm39)	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,079,593 (GRCm39)	V248A	probably damaging	Het
Krt33b	A	G	11: 99,920,389 (GRCm39)	I88T	probably damaging	Het
Lhx2	G	A	2: 38,241,858 (GRCm39)	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,217,532 (GRCm39)	G562R		Het
Myom2	A	T	8: 15,167,679 (GRCm39)	Y1088F	probably null	Het
Ncapg	T	A	5: 45,851,434 (GRCm39)		probably null	Het
Nudc	A	C	4: 133,261,714 (GRCm39)	V190G	possibly damaging	Het
Obscn	G	T	11: 59,013,686 (GRCm39)	R1054S	probably benign	Het
Or10g1	A	G	14: 52,648,168 (GRCm39)	W54R	probably benign	Het
Or10g9	A	G	9: 39,911,860 (GRCm39)	V221A	probably benign	Het
Or2d4	A	T	7: 106,543,380 (GRCm39)	V276E	probably damaging	Het
Or52h9	T	C	7: 104,202,689 (GRCm39)	S188P	possibly damaging	Het
Or56a5	T	A	7: 104,793,144 (GRCm39)	M119L	probably benign	Het
Or8j3	T	C	2: 86,028,182 (GRCm39)	M305V	probably benign	Het
Pcdh10	A	T	3: 45,338,007 (GRCm39)	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,467,602 (GRCm39)	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,878,340 (GRCm39)	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,896,480 (GRCm39)	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,339,072 (GRCm39)		probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,540,839 (GRCm39)	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,319,404 (GRCm39)	H941R	probably benign	Het
Reln	T	C	5: 22,308,433 (GRCm39)	H312R	probably damaging	Het
Rnf166	T	A	8: 123,194,726 (GRCm39)	H208L	probably damaging	Het
Spmap2	T	C	10: 79,412,549 (GRCm39)	E314G	probably damaging	Het
Timeless	T	C	10: 128,086,295 (GRCm39)	S999P	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 155,883,355 (GRCm39)	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,750,804 (GRCm39)	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,896,886 (GRCm39)	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,208,810 (GRCm39)	D427V	probably damaging	Het
Zer1	A	T	2: 30,003,449 (GRCm39)		probably benign	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	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
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'- CTGGCAAGACGGGTTTATCTC -3'

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

Posted On

2019-10-07