Mutagenetix > Incidental Mutation

Incidental Mutation 'R2329:Ccdc146'

245788

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

040320-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21497959-21629675 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 21513610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

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

AlphaFold

E9Q9F7

Predicted Effect

probably null
Transcript: ENSMUST00000115245

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	C	13: 77,451,444 (GRCm39)	S843R	probably benign	Het
Adamts15	G	T	9: 30,813,781 (GRCm39)	R795S	probably damaging	Het
Adora2a	T	A	10: 75,162,017 (GRCm39)	V52E	probably damaging	Het
Amph	T	A	13: 19,323,520 (GRCm39)	L594Q	probably benign	Het
Batf3	A	T	1: 190,840,646 (GRCm39)		probably null	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csn3	A	G	5: 88,077,862 (GRCm39)	T123A	possibly damaging	Het
Cspg4	A	G	9: 56,795,834 (GRCm39)	T1190A	probably benign	Het
Dab2	C	A	15: 6,459,044 (GRCm39)	Q298K	possibly damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Efcab6	C	T	15: 83,834,249 (GRCm39)	R453Q	possibly damaging	Het
Ern2	C	T	7: 121,772,710 (GRCm39)	M610I	possibly damaging	Het
Fnip1	A	G	11: 54,356,933 (GRCm39)	D38G	probably damaging	Het
Fosb	T	C	7: 19,041,110 (GRCm39)	T128A	probably benign	Het
Gad2	G	A	2: 22,558,301 (GRCm39)	V340M	probably damaging	Het
Gm19684	T	A	17: 36,439,345 (GRCm39)		probably benign	Het
Gstk1	T	A	6: 42,223,848 (GRCm39)	D86E	possibly damaging	Het
Hus1	A	G	11: 8,957,492 (GRCm39)		probably null	Het
Kbtbd8	T	C	6: 95,103,761 (GRCm39)	I547T	probably benign	Het
Mrpl38	T	A	11: 116,022,845 (GRCm39)	H373L	possibly damaging	Het
Nostrin	A	T	2: 68,991,438 (GRCm39)	T144S	probably damaging	Het
Prl8a6	T	C	13: 27,621,050 (GRCm39)	H60R	probably benign	Het
Ros1	A	G	10: 52,038,983 (GRCm39)	I329T	probably damaging	Het
Scd2	T	A	19: 44,286,492 (GRCm39)	Y107*	probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc34a3	T	C	2: 25,119,422 (GRCm39)	T483A	possibly damaging	Het
Slc35c1	A	T	2: 92,289,040 (GRCm39)	Y155*	probably null	Het
Susd1	T	C	4: 59,379,715 (GRCm39)	D304G	possibly damaging	Het
Taf5	C	T	19: 47,063,563 (GRCm39)	S371L	probably benign	Het
Tenm4	A	G	7: 96,545,069 (GRCm39)	T2362A	probably benign	Het
Tsg101	A	T	7: 46,540,868 (GRCm39)	D158E	probably damaging	Het
Ttn	G	A	2: 76,599,786 (GRCm39)	P19102S	probably damaging	Het
Ttn	A	G	2: 76,608,412 (GRCm39)	V17837A	probably damaging	Het
Uhrf1	C	A	17: 56,617,671 (GRCm39)		probably null	Het
Ulk4	C	T	9: 121,101,953 (GRCm39)	E42K	probably damaging	Het
Vmn1r184	A	T	7: 25,966,387 (GRCm39)	L44F	probably damaging	Het
Zfp932	A	T	5: 110,157,406 (GRCm39)	H368L	probably benign	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
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
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'- TGATAACTGAAGGTTGCGGG -3'
(R):5'- TCTCTGTCAGAAGCTGAGGC -3'

Sequencing Primer
(F):5'- ATAACTGAAGGTTGCGGGTTGTTTTG -3'
(R):5'- CTGAGGCCAAGTTAGTGGAGC -3'

Posted On

2014-10-30