Mutagenetix > Incidental Mutation

Incidental Mutation 'R3436:Ccdc146'

267184

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

040654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21497959-21629675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21502003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 804 (S804P)

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115245] [ENSMUST00000198930]

AlphaFold

E9Q9F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115245
AA Change: S804P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: S804P

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
coiled coil region	438	477	N/A	INTRINSIC
coiled coil region	549	595	N/A	INTRINSIC
coiled coil region	617	663	N/A	INTRINSIC
coiled coil region	690	720	N/A	INTRINSIC
coiled coil region	770	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199553

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	T	C	4: 63,067,721 (GRCm39)	E163G	probably benign	Het
Angptl3	A	T	4: 98,921,540 (GRCm39)	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,468,255 (GRCm39)	N86S	probably benign	Het
Cadps	A	T	14: 12,616,158 (GRCm38)		probably null	Het
Cdc20b	T	C	13: 113,215,233 (GRCm39)	I267T	probably damaging	Het
Cdh8	A	G	8: 100,127,350 (GRCm39)		probably benign	Het
Dse	G	T	10: 34,028,470 (GRCm39)	N873K	probably benign	Het
Ehd1	G	T	19: 6,327,044 (GRCm39)	E14*	probably null	Het
F8	A	G	X: 74,311,030 (GRCm39)		probably benign	Het
Flnb	T	C	14: 7,942,057 (GRCm38)	V2345A	probably damaging	Het
Fndc1	T	C	17: 7,969,189 (GRCm39)	K1559E	probably damaging	Het
Ighg1	T	C	12: 113,293,180 (GRCm39)	E170G	probably damaging	Het
Kmt2b	G	T	7: 30,276,117 (GRCm39)	P1794Q	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Med25	C	A	7: 44,535,314 (GRCm39)	R37L	possibly damaging	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or2n1d	A	G	17: 38,646,323 (GRCm39)	I92V	probably damaging	Het
Or2n1e	G	A	17: 38,586,421 (GRCm39)	G253D	probably damaging	Het
Or4c102	T	A	2: 88,422,448 (GRCm39)	F100Y	probably damaging	Het
Pkd1l2	T	C	8: 117,767,478 (GRCm39)	N1271D	probably benign	Het
Plpp2	A	T	10: 79,363,647 (GRCm39)		probably null	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Prr16	A	G	18: 51,436,195 (GRCm39)	N225D	probably benign	Het
Pwwp2a	C	T	11: 43,597,015 (GRCm39)	Q452*	probably null	Het
Slfn2	A	T	11: 82,960,390 (GRCm39)	H123L	probably benign	Het
Sort1	T	A	3: 108,245,123 (GRCm39)	I325N	probably damaging	Het
Tmem132e	A	G	11: 82,335,156 (GRCm39)	Y654C	probably damaging	Het
Tmprss11b	A	T	5: 86,815,443 (GRCm39)	Y48*	probably null	Het
Tpp2	T	C	1: 43,979,304 (GRCm39)	I67T	probably damaging	Het
Trdn	G	A	10: 33,344,191 (GRCm39)		probably null	Het
Trim14	C	T	4: 46,523,739 (GRCm39)	V100I	possibly damaging	Het
Trim17	T	C	11: 58,856,059 (GRCm39)	C39R	probably damaging	Het
Trim52	C	T	14: 106,344,741 (GRCm39)	P133L	possibly damaging	Het
Unc13b	T	C	4: 43,097,028 (GRCm39)		probably benign	Het
Vmn2r94	G	A	17: 18,478,650 (GRCm39)		probably benign	Het
Vsig4	A	G	X: 95,334,422 (GRCm39)	V29A	probably benign	Het
Washc4	T	A	10: 83,405,866 (GRCm39)	I454N	probably benign	Het
Wnk3	T	A	X: 150,069,300 (GRCm39)	F886I	probably benign	Het
Ylpm1	T	C	12: 85,096,644 (GRCm39)		probably null	Het
Zfp507	A	T	7: 35,487,195 (GRCm39)	Y234N	probably damaging	Het

Other mutations in Ccdc146

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ccdc146	APN	5	21,506,420 (GRCm39)	missense	possibly damaging	0.93
IGL01066:Ccdc146	APN	5	21,524,540 (GRCm39)	missense	probably benign	0.03
IGL01399:Ccdc146	APN	5	21,499,611 (GRCm39)	missense	possibly damaging	0.75
IGL01866:Ccdc146	APN	5	21,538,052 (GRCm39)	missense	probably damaging	0.99
IGL01868:Ccdc146	APN	5	21,538,052 (GRCm39)	missense	probably damaging	0.99
IGL01869:Ccdc146	APN	5	21,521,837 (GRCm39)	missense	probably benign	0.25
IGL02213:Ccdc146	APN	5	21,521,902 (GRCm39)	missense	probably benign	0.10
IGL02338:Ccdc146	APN	5	21,524,604 (GRCm39)	unclassified	probably benign
IGL02553:Ccdc146	APN	5	21,502,631 (GRCm39)	missense	probably benign	0.00
IGL02838:Ccdc146	APN	5	21,502,567 (GRCm39)	missense	probably benign	0.01
Starcraft	UTSW	5	21,604,612 (GRCm39)	splice site	probably null
R0051:Ccdc146	UTSW	5	21,521,902 (GRCm39)	missense	possibly damaging	0.58
R0051:Ccdc146	UTSW	5	21,521,902 (GRCm39)	missense	possibly damaging	0.58
R0055:Ccdc146	UTSW	5	21,502,004 (GRCm39)	splice site	probably null
R0115:Ccdc146	UTSW	5	21,527,754 (GRCm39)	missense	possibly damaging	0.87
R0373:Ccdc146	UTSW	5	21,524,543 (GRCm39)	missense	probably benign	0.00
R1251:Ccdc146	UTSW	5	21,498,370 (GRCm39)	missense	probably benign	0.00
R1355:Ccdc146	UTSW	5	21,526,240 (GRCm39)	missense	probably damaging	1.00
R1405:Ccdc146	UTSW	5	21,604,730 (GRCm39)	missense	probably benign	0.00
R1405:Ccdc146	UTSW	5	21,604,730 (GRCm39)	missense	probably benign	0.00
R1470:Ccdc146	UTSW	5	21,524,564 (GRCm39)	missense	probably damaging	1.00
R1470:Ccdc146	UTSW	5	21,524,564 (GRCm39)	missense	probably damaging	1.00
R1556:Ccdc146	UTSW	5	21,535,551 (GRCm39)	missense	probably damaging	1.00
R1613:Ccdc146	UTSW	5	21,499,522 (GRCm39)	missense	probably damaging	0.99
R1872:Ccdc146	UTSW	5	21,506,288 (GRCm39)	missense	probably benign	0.01
R2271:Ccdc146	UTSW	5	21,604,719 (GRCm39)	missense	probably benign	0.15
R2329:Ccdc146	UTSW	5	21,513,610 (GRCm39)	critical splice donor site	probably null
R2518:Ccdc146	UTSW	5	21,510,526 (GRCm39)	missense	probably benign
R2680:Ccdc146	UTSW	5	21,510,267 (GRCm39)	missense	possibly damaging	0.58
R3116:Ccdc146	UTSW	5	21,521,953 (GRCm39)	missense	probably benign	0.02
R3121:Ccdc146	UTSW	5	21,499,591 (GRCm39)	missense	possibly damaging	0.56
R3122:Ccdc146	UTSW	5	21,499,591 (GRCm39)	missense	possibly damaging	0.56
R3159:Ccdc146	UTSW	5	21,604,790 (GRCm39)	missense	unknown
R4043:Ccdc146	UTSW	5	21,521,941 (GRCm39)	missense	probably benign	0.14
R4226:Ccdc146	UTSW	5	21,527,756 (GRCm39)	missense	probably benign	0.09
R4493:Ccdc146	UTSW	5	21,508,191 (GRCm39)	missense	possibly damaging	0.92
R5013:Ccdc146	UTSW	5	21,538,036 (GRCm39)	missense	probably damaging	1.00
R5024:Ccdc146	UTSW	5	21,604,612 (GRCm39)	splice site	probably null
R5051:Ccdc146	UTSW	5	21,508,081 (GRCm39)	missense	possibly damaging	0.77
R5384:Ccdc146	UTSW	5	21,513,711 (GRCm39)	missense	probably benign	0.37
R5532:Ccdc146	UTSW	5	21,510,329 (GRCm39)	missense	probably benign	0.02
R5906:Ccdc146	UTSW	5	21,506,350 (GRCm39)	missense	possibly damaging	0.88
R5927:Ccdc146	UTSW	5	21,513,619 (GRCm39)	nonsense	probably null
R5951:Ccdc146	UTSW	5	21,524,577 (GRCm39)	missense	possibly damaging	0.84
R5978:Ccdc146	UTSW	5	21,521,966 (GRCm39)	missense	probably benign	0.02
R5990:Ccdc146	UTSW	5	21,523,180 (GRCm39)	missense	probably benign	0.41
R6123:Ccdc146	UTSW	5	21,510,595 (GRCm39)	missense	possibly damaging	0.93
R6217:Ccdc146	UTSW	5	21,522,900 (GRCm39)	splice site	probably null
R6276:Ccdc146	UTSW	5	21,506,338 (GRCm39)	missense	probably damaging	0.98
R6665:Ccdc146	UTSW	5	21,508,092 (GRCm39)	missense	probably damaging	1.00
R7077:Ccdc146	UTSW	5	21,510,272 (GRCm39)	missense	possibly damaging	0.94
R7204:Ccdc146	UTSW	5	21,513,624 (GRCm39)	missense	probably benign	0.22
R7336:Ccdc146	UTSW	5	21,508,110 (GRCm39)	missense	probably benign	0.41
R7608:Ccdc146	UTSW	5	21,506,450 (GRCm39)	missense	probably benign	0.02
R8310:Ccdc146	UTSW	5	21,506,469 (GRCm39)	intron	probably benign
R8427:Ccdc146	UTSW	5	21,604,790 (GRCm39)	missense	unknown
R8927:Ccdc146	UTSW	5	21,538,060 (GRCm39)	missense	probably damaging	1.00
R8928:Ccdc146	UTSW	5	21,538,060 (GRCm39)	missense	probably damaging	1.00
R8957:Ccdc146	UTSW	5	21,514,585 (GRCm39)	intron	probably benign
R9003:Ccdc146	UTSW	5	21,508,132 (GRCm39)	missense	possibly damaging	0.58
R9252:Ccdc146	UTSW	5	21,502,023 (GRCm39)	missense	probably damaging	0.98
R9425:Ccdc146	UTSW	5	21,508,135 (GRCm39)	missense	probably damaging	0.99
R9612:Ccdc146	UTSW	5	21,535,577 (GRCm39)	missense	probably damaging	0.99
R9774:Ccdc146	UTSW	5	21,506,247 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTTCTGTCACTCAAGGAG -3'
(R):5'- ACATAGTTAGTACAGCTCCAGAGAC -3'

Sequencing Primer
(F):5'- GAGAGGGGGTTCTGTTACTTAAGAAG -3'
(R):5'- GTACAGCTCCAGAGACTTTTCAGAG -3'

Posted On

2015-02-18