Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Ccdc146'

242461

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21497959-21629675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21604719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 40 (D40Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030552 (fasta)

Gene Model

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

AlphaFold

E9Q9F7

Predicted Effect

probably benign
Transcript: ENSMUST00000030552
AA Change: D40Y

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: D40Y

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: D40Y

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: D40Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,159,403 (GRCm39)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	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
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
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'- TGACAGTGCTGCAGACTTTG -3'
(R):5'- CTGTTGGCAAATATTCTTGGTACAC -3'

Sequencing Primer
(F):5'- CCCACCTTGATGATAATGGACTG -3'
(R):5'- ACTTGGTAAGTGAAGATATGCTTG -3'

Posted On

2014-10-16