Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01921:Ccdc102a'

180105

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc102a

Ensembl Gene

ENSMUSG00000063605

Gene Name

coiled-coil domain containing 102A

Synonyms

LOC234582

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL01921

Quality Score

Status

Chromosome

Chromosomal Location

95629497-95644726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95640019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 92 (T92A)

Ref Sequence

ENSEMBL: ENSMUSP00000077107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077955] [ENSMUST00000162020]

AlphaFold

Q3TMW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000077955
AA Change: T92A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: T92A

Domain	Start	End	E-Value	Type
low complexity region	36	67	N/A	INTRINSIC
low complexity region	71	87	N/A	INTRINSIC
coiled coil region	101	160	N/A	INTRINSIC
Pfam:Myosin_tail_1	311	508	8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162020

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	A	8: 44,078,548 (GRCm39)	V559L	probably damaging	Het
Agtpbp1	T	C	13: 59,660,297 (GRCm39)	T310A	possibly damaging	Het
Ciao1	C	T	2: 127,084,755 (GRCm39)	V328I	probably benign	Het
Col12a1	T	A	9: 79,557,299 (GRCm39)	Q1943L	possibly damaging	Het
Diaph1	T	C	18: 37,989,261 (GRCm39)	D898G	possibly damaging	Het
Dio3	A	T	12: 110,245,789 (GRCm39)	T42S	possibly damaging	Het
Dnah8	T	A	17: 30,955,115 (GRCm39)	I2048N	probably benign	Het
Egr2	T	A	10: 67,376,208 (GRCm39)		probably null	Het
Epc2	T	A	2: 49,422,209 (GRCm39)	Y368N	probably damaging	Het
Furin	A	G	7: 80,045,702 (GRCm39)		probably benign	Het
Gga1	T	C	15: 78,777,995 (GRCm39)	M620T	possibly damaging	Het
Gm21976	T	A	13: 98,441,829 (GRCm39)	Y45*	probably null	Het
Gpn1	T	C	5: 31,656,612 (GRCm39)	V105A	probably damaging	Het
Hoxb8	A	T	11: 96,175,181 (GRCm39)	N206I	probably damaging	Het
Kif15	T	A	9: 122,808,569 (GRCm39)	L67Q	probably damaging	Het
Krt40	T	A	11: 99,433,989 (GRCm39)		probably benign	Het
Mat1a	T	C	14: 40,836,292 (GRCm39)		probably benign	Het
Mkrn1	T	C	6: 39,382,847 (GRCm39)	D99G	possibly damaging	Het
Plxnb2	T	C	15: 89,048,474 (GRCm39)	Y645C	possibly damaging	Het
Ppp1r13b	A	G	12: 111,799,671 (GRCm39)	V702A	probably benign	Het
Ppp4r4	G	T	12: 103,542,569 (GRCm39)	M1I	probably null	Het
Prss21	T	A	17: 24,091,414 (GRCm39)	M217K	possibly damaging	Het
R3hcc1l	A	G	19: 42,552,220 (GRCm39)	S406G	possibly damaging	Het
Rfesd	T	C	13: 76,156,385 (GRCm39)	E7G	probably benign	Het
Ripk4	T	C	16: 97,544,565 (GRCm39)	E694G	possibly damaging	Het
Rlf	T	C	4: 121,003,943 (GRCm39)	D1679G	probably damaging	Het
Ryr2	C	T	13: 11,569,436 (GRCm39)	C4956Y	possibly damaging	Het
Scart1	G	T	7: 139,808,632 (GRCm39)	E848*	probably null	Het
Uri1	T	A	7: 37,681,072 (GRCm39)	K111*	probably null	Het
Usf1	A	G	1: 171,244,424 (GRCm39)	E108G	possibly damaging	Het
Vmn1r71	C	A	7: 10,482,199 (GRCm39)	R163L	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r86	T	C	10: 130,291,610 (GRCm39)	T52A	probably benign	Het
Washc5	A	T	15: 59,213,958 (GRCm39)		probably null	Het
Zfp583	T	C	7: 6,328,569 (GRCm39)	T7A	possibly damaging	Het
Zim1	T	G	7: 6,685,184 (GRCm39)		probably benign	Het

Other mutations in Ccdc102a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ccdc102a	APN	8	95,638,266 (GRCm39)	splice site	probably null
IGL02961:Ccdc102a	APN	8	95,629,978 (GRCm39)	missense	possibly damaging	0.95
R0413:Ccdc102a	UTSW	8	95,629,914 (GRCm39)	missense	probably benign	0.23
R0423:Ccdc102a	UTSW	8	95,632,554 (GRCm39)	splice site	probably benign
R0437:Ccdc102a	UTSW	8	95,640,054 (GRCm39)	missense	probably damaging	1.00
R1468:Ccdc102a	UTSW	8	95,632,714 (GRCm39)	missense	probably benign	0.06
R1468:Ccdc102a	UTSW	8	95,632,714 (GRCm39)	missense	probably benign	0.06
R1540:Ccdc102a	UTSW	8	95,634,341 (GRCm39)	critical splice donor site	probably null
R1893:Ccdc102a	UTSW	8	95,640,171 (GRCm39)	missense	probably damaging	1.00
R2317:Ccdc102a	UTSW	8	95,634,957 (GRCm39)	missense	probably null	1.00
R4280:Ccdc102a	UTSW	8	95,634,444 (GRCm39)	nonsense	probably null
R6115:Ccdc102a	UTSW	8	95,629,999 (GRCm39)	missense	probably benign
R6331:Ccdc102a	UTSW	8	95,638,144 (GRCm39)	missense	probably benign
R6650:Ccdc102a	UTSW	8	95,639,892 (GRCm39)	missense	probably benign	0.23
R7019:Ccdc102a	UTSW	8	95,636,431 (GRCm39)	missense	probably benign	0.42
R7302:Ccdc102a	UTSW	8	95,640,066 (GRCm39)	missense	probably damaging	1.00
R7402:Ccdc102a	UTSW	8	95,629,981 (GRCm39)	missense	probably damaging	1.00
R7949:Ccdc102a	UTSW	8	95,631,913 (GRCm39)	missense	probably damaging	1.00
R7995:Ccdc102a	UTSW	8	95,634,495 (GRCm39)	missense	probably damaging	0.99
R8166:Ccdc102a	UTSW	8	95,639,944 (GRCm39)	missense	possibly damaging	0.86
R8537:Ccdc102a	UTSW	8	95,632,684 (GRCm39)	missense	probably benign	0.00
R9179:Ccdc102a	UTSW	8	95,639,748 (GRCm39)	missense	possibly damaging	0.79
R9297:Ccdc102a	UTSW	8	95,638,120 (GRCm39)	missense	possibly damaging	0.78
R9599:Ccdc102a	UTSW	8	95,639,901 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07