Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Ccdc146'

481931

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21497959-21629675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21523180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 286 (S286P)

Ref Sequence

ENSEMBL: ENSMUSP00000030552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245] [ENSMUST00000198930]

AlphaFold

E9Q9F7

Predicted Effect

probably benign
Transcript: ENSMUST00000030552
AA Change: S286P

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: S286P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115245
AA Change: S286P

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: S286P

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

noncoding transcript
Transcript: ENSMUST00000123796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132473

Predicted Effect

probably benign
Transcript: ENSMUST00000198930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199553

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,285,123 (GRCm39)	M11L	probably benign	Het
Acad10	A	G	5: 121,783,468 (GRCm39)	L319P	probably damaging	Het
Adam12	C	A	7: 133,533,465 (GRCm39)	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,243,146 (GRCm39)	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,361,531 (GRCm39)	T797M	possibly damaging	Het
Auts2	G	A	5: 131,505,734 (GRCm39)		probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmtr1	T	C	17: 29,921,135 (GRCm39)	Y794H	probably benign	Het
Copb2	A	G	9: 98,452,378 (GRCm39)	E54G	probably damaging	Het
Ctsk	A	T	3: 95,408,767 (GRCm39)	H77L	probably damaging	Het
Dnah3	T	C	7: 119,672,764 (GRCm39)	Y546C	probably benign	Het
Ephb2	A	T	4: 136,423,366 (GRCm39)	V304E	probably benign	Het
Ern1	C	T	11: 106,302,595 (GRCm39)	V420I	probably benign	Het
Esrrg	A	T	1: 187,930,995 (GRCm39)	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960 (GRCm39)	F189V	probably damaging	Het
Foxl1	G	T	8: 121,855,160 (GRCm39)	A154S	probably damaging	Het
Frs3	A	G	17: 48,012,602 (GRCm39)	D103G	possibly damaging	Het
Gdpd4	A	G	7: 97,690,137 (GRCm39)	T610A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm4847	C	T	1: 166,470,942 (GRCm39)	S36N	probably benign	Het
Grm8	G	T	6: 27,363,623 (GRCm39)	L631I	probably damaging	Het
Ints9	T	A	14: 65,276,777 (GRCm39)	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,774,885 (GRCm39)	H647R	probably damaging	Het
Kcnq1	T	A	7: 142,815,105 (GRCm39)	H501Q	probably damaging	Het
Kctd20	T	C	17: 29,185,884 (GRCm39)	L409P	probably benign	Het
Kiss1r	A	G	10: 79,754,541 (GRCm39)	T12A	probably benign	Het
Kndc1	T	A	7: 139,507,333 (GRCm39)	V1173E	probably damaging	Het
Kprp	T	C	3: 92,732,081 (GRCm39)	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,662,441 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,391,784 (GRCm39)	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,817,707 (GRCm39)	G228D	probably damaging	Het
Muc16	G	A	9: 18,570,539 (GRCm39)	A660V	unknown	Het
Muc5b	T	C	7: 141,411,898 (GRCm39)	C1615R	unknown	Het
Nans	A	T	4: 46,489,441 (GRCm39)	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,448,418 (GRCm39)	S207L	possibly damaging	Het
Nrdc	T	G	4: 108,876,268 (GRCm39)	F355V	probably damaging	Het
Nrip2	C	T	6: 128,376,979 (GRCm39)		probably benign	Het
Nufip1	C	T	14: 76,351,628 (GRCm39)	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,049,071 (GRCm39)	H114Y	possibly damaging	Het
Opa1	T	A	16: 29,405,836 (GRCm39)	W134R	probably damaging	Het
Or4k45	T	A	2: 111,395,019 (GRCm39)	I257F	probably damaging	Het
Or8a1b	G	T	9: 37,623,406 (GRCm39)	H56Q	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Patl2	T	C	2: 121,954,965 (GRCm39)	D361G	probably damaging	Het
Pcx	A	G	19: 4,671,294 (GRCm39)	D1172G	probably damaging	Het
Phax	A	G	18: 56,708,675 (GRCm39)	T58A	probably benign	Het
Phf11b	T	A	14: 59,562,375 (GRCm39)	I177L	possibly damaging	Het
Pole	T	A	5: 110,450,010 (GRCm39)	V819D	probably damaging	Het
Poll	T	C	19: 45,541,594 (GRCm39)	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,386,602 (GRCm39)		probably null	Het
Ppp1r9a	C	A	6: 5,134,660 (GRCm39)	H928N	probably benign	Het
Prdm2	T	C	4: 142,896,683 (GRCm39)	N102D	probably damaging	Het
Rbm45	A	T	2: 76,200,756 (GRCm39)	D95V	probably benign	Het
Rdh19	A	G	10: 127,695,463 (GRCm39)	M226V	probably benign	Het
Rev3l	T	G	10: 39,699,807 (GRCm39)	S1435A	probably benign	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rhobtb2	T	C	14: 70,033,818 (GRCm39)	N469S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,593,708 (GRCm39)	I177T	probably damaging	Het
Samd12	T	A	15: 53,583,019 (GRCm39)	D105V	probably damaging	Het
Setd3	A	T	12: 108,126,594 (GRCm39)	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,584,192 (GRCm39)	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,014,627 (GRCm39)	A195S	possibly damaging	Het
Smcp	C	A	3: 92,491,557 (GRCm39)	A97S	unknown	Het
Stxbp5	G	A	10: 9,711,677 (GRCm39)	H248Y	probably damaging	Het
Syne2	T	C	12: 76,070,918 (GRCm39)	L4457P	probably benign	Het
Tbx3	A	G	5: 119,818,594 (GRCm39)	T390A	probably benign	Het
Tmeff2	G	A	1: 51,018,601 (GRCm39)	W194*	probably null	Het
Tmem120b	G	A	5: 123,242,544 (GRCm39)	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,545 (GRCm39)	V402A	probably benign	Het
Ttll2	C	A	17: 7,619,766 (GRCm39)	G54W	possibly damaging	Het
Uba7	G	A	9: 107,858,433 (GRCm39)	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,482,809 (GRCm39)	E55G	probably damaging	Het
Wdr35	A	G	12: 9,066,511 (GRCm39)	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,267,293 (GRCm39)	V381M	probably damaging	Het
Zdhhc11	T	A	13: 74,127,303 (GRCm39)	W227R	probably benign	Het
Zfp341	T	C	2: 154,487,579 (GRCm39)	S681P	probably damaging	Het
Zfp735	T	A	11: 73,581,174 (GRCm39)	D70E	possibly damaging	Het
Zmat4	G	A	8: 24,419,279 (GRCm39)	A104T	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
R3436:Ccdc146	UTSW	5	21,502,003 (GRCm39)	missense	possibly damaging	0.92
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
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'- CGAGGAGGCTTCGTTCTCTT -3'
(R):5'- GTTTTCAGGAGCATTCTAGGAAG -3'

Sequencing Primer
(F):5'- CGTTCTCTTTGGTTAGTTCCAATAG -3'
(R):5'- CAGTCCATCATCGAGTGGATATC -3'

Posted On

2017-06-26