Mutagenetix > Incidental Mutation

Incidental Mutation 'R7856:Ccdc34'

607223

Institutional Source

Beutler Lab

Gene Symbol

Ccdc34

Ensembl Gene

ENSMUSG00000027160

Gene Name

coiled-coil domain containing 34

Synonyms

2810027O19Rik, 4930522P10Rik

MMRRC Submission

045909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7856 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109848162-110003705 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 109874572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 310 (Y310*)

Ref Sequence

ENSEMBL: ENSMUSP00000028580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028580]

AlphaFold

Q3UI66

Predicted Effect

probably null
Transcript: ENSMUST00000028580
AA Change: Y310*

SMART Domains

Protein: ENSMUSP00000028580
Gene: ENSMUSG00000027160
AA Change: Y310*

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
Pfam:DUF4207	62	315	5.6e-56	PFAM
low complexity region	338	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127630

SMART Domains

Protein: ENSMUSP00000130554
Gene: ENSMUSG00000027160

Domain	Start	End	E-Value	Type
Pfam:DUF4207	25	174	6.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150183

SMART Domains

Protein: ENSMUSP00000127363
Gene: ENSMUSG00000027160

Domain	Start	End	E-Value	Type
Pfam:DUF4207	31	139	3.7e-13	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	T	C	17: 25,608,451 (GRCm39)	T819A	probably damaging	Het
Ccdc63	A	G	5: 122,268,006 (GRCm39)	W8R	probably benign	Het
Ces2g	G	A	8: 105,693,014 (GRCm39)	V351I	not run	Het
Ces3b	A	G	8: 105,819,894 (GRCm39)	*572W	probably null	Het
Dgka	T	C	10: 128,572,533 (GRCm39)	N40S	probably benign	Het
Dnajc13	C	A	9: 104,044,684 (GRCm39)	R1835L	possibly damaging	Het
Dusp7	C	A	9: 106,246,067 (GRCm39)	A24E	unknown	Het
Ep400	T	A	5: 110,814,450 (GRCm39)	T2931S	probably damaging	Het
Gm4847	A	T	1: 166,462,395 (GRCm39)	L365Q	probably damaging	Het
Gtse1	C	T	15: 85,748,342 (GRCm39)	T249M	probably benign	Het
Hook3	T	C	8: 26,525,249 (GRCm39)	D619G	probably damaging	Het
Itsn1	T	A	16: 91,705,375 (GRCm39)		probably null	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Mx1	A	G	16: 97,256,735 (GRCm39)	I148T	probably damaging	Het
Or5m3	T	A	2: 85,838,640 (GRCm39)	N173K	probably damaging	Het
Or6c1b	A	G	10: 129,272,885 (GRCm39)	E68G	probably damaging	Het
Orc3	T	C	4: 34,585,647 (GRCm39)	I416V	probably benign	Het
Plcxd3	A	T	15: 4,546,581 (GRCm39)	Y195F	probably damaging	Het
Ppp1r3a	A	T	6: 14,718,025 (GRCm39)	I963N	probably benign	Het
Ppp1r7	A	G	1: 93,278,068 (GRCm39)	D69G	possibly damaging	Het
Rars1	A	G	11: 35,699,412 (GRCm39)	V627A	probably benign	Het
Sash1	A	G	10: 8,605,472 (GRCm39)	S973P	probably benign	Het
Slc22a28	T	C	19: 8,040,698 (GRCm39)	T518A	probably damaging	Het
Slc4a9	C	T	18: 36,661,751 (GRCm39)	H92Y	probably benign	Het
Son	A	G	16: 91,456,146 (GRCm39)	D1631G	probably damaging	Het
Stat5a	T	C	11: 100,774,728 (GRCm39)	W746R	unknown	Het
Thsd4	A	T	9: 59,910,144 (GRCm39)	L508Q	probably damaging	Het
Tlx1	C	T	19: 45,144,427 (GRCm39)	Q292*	probably null	Het
Ttc34	T	C	4: 154,945,743 (GRCm39)	V259A	probably benign	Het
Xrn2	T	G	2: 146,910,393 (GRCm39)		probably null	Het
Yif1b	A	G	7: 28,944,045 (GRCm39)	D137G	possibly damaging	Het
Zfp850	A	G	7: 27,689,899 (GRCm39)	I103T	probably benign	Het
Zfp937	T	C	2: 150,081,467 (GRCm39)	V499A	probably benign	Het

Other mutations in Ccdc34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
marrowfuel	UTSW	2	109,874,572 (GRCm39)	nonsense	probably null
peek	UTSW	2	109,848,352 (GRCm39)	missense	probably benign	0.04
LCD18:Ccdc34	UTSW	2	110,016,318 (GRCm38)	unclassified	probably benign
R1808:Ccdc34	UTSW	2	109,874,601 (GRCm39)	missense	probably benign	0.15
R2011:Ccdc34	UTSW	2	109,874,649 (GRCm39)	missense	possibly damaging	0.93
R2025:Ccdc34	UTSW	2	109,862,731 (GRCm39)	missense	possibly damaging	0.95
R3852:Ccdc34	UTSW	2	109,862,773 (GRCm39)	missense	possibly damaging	0.95
R4968:Ccdc34	UTSW	2	109,871,078 (GRCm39)	critical splice donor site	probably null
R4986:Ccdc34	UTSW	2	109,848,214 (GRCm39)	start codon destroyed	probably null	0.02
R6075:Ccdc34	UTSW	2	109,874,580 (GRCm39)	missense	possibly damaging	0.77
R6103:Ccdc34	UTSW	2	109,848,352 (GRCm39)	missense	probably benign	0.04
R6294:Ccdc34	UTSW	2	109,848,496 (GRCm39)	missense	probably benign	0.08
R9191:Ccdc34	UTSW	2	109,852,301 (GRCm39)	missense	possibly damaging	0.73
R9627:Ccdc34	UTSW	2	109,871,010 (GRCm39)	frame shift	probably null
X0025:Ccdc34	UTSW	2	109,874,657 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGGCCTCAAGTTTTAAGCTATCC -3'
(R):5'- TAAATGTAAGCTCCGGGTAGCTAG -3'

Sequencing Primer
(F):5'- CAATTTATCAGTGATATTTTGTCGCC -3'
(R):5'- CTCCGGGTAGCTAGGTATGCTC -3'

Posted On

2019-12-20