Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02568:Ccdc38'

298930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc38

Ensembl Gene

ENSMUSG00000036168

Gene Name

coiled-coil domain containing 38

Synonyms

4933417K05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL02568

Quality Score

Status

Chromosome

Chromosomal Location

93376494-93420189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93415685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 447 (D447V)

Ref Sequence

ENSEMBL: ENSMUSP00000089860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020203] [ENSMUST00000092215] [ENSMUST00000132214]

AlphaFold

Q8CDN8

Predicted Effect

probably benign
Transcript: ENSMUST00000020203

SMART Domains

Protein: ENSMUSP00000020203
Gene: ENSMUSG00000020018

Domain	Start	End	E-Value	Type
Sm	9	74	6.54e-25	SMART
low complexity region	76	86	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092215
AA Change: D447V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: D447V

Domain	Start	End	E-Value	Type
Pfam:DUF4200	112	230	4.4e-28	PFAM
low complexity region	280	289	N/A	INTRINSIC
low complexity region	317	333	N/A	INTRINSIC
coiled coil region	388	412	N/A	INTRINSIC
coiled coil region	479	522	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132214
AA Change: D408V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,033,184 (GRCm39)		probably benign	Het
Abcg5	C	T	17: 84,977,827 (GRCm39)	R143Q	probably damaging	Het
Arap3	G	A	18: 38,129,711 (GRCm39)	T150I	probably benign	Het
Arhgap32	T	C	9: 32,158,490 (GRCm39)	V175A	probably damaging	Het
Bpifb3	A	G	2: 153,766,721 (GRCm39)	E208G	probably benign	Het
C2	T	A	17: 35,083,325 (GRCm39)	D518V	possibly damaging	Het
C6	T	A	15: 4,820,646 (GRCm39)	C552*	probably null	Het
Cept1	C	T	3: 106,411,035 (GRCm39)	R386H	probably benign	Het
Comt	A	G	16: 18,230,454 (GRCm39)	V85A	probably damaging	Het
Ddx24	G	T	12: 103,383,571 (GRCm39)	L627I	probably damaging	Het
Efemp1	T	C	11: 28,866,971 (GRCm39)		probably null	Het
Etf1	T	C	18: 35,046,714 (GRCm39)	T99A	possibly damaging	Het
Fhad1	T	C	4: 141,660,105 (GRCm39)	E68G	probably null	Het
Fzd3	C	A	14: 65,473,389 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,606 (GRCm39)	F119L	probably benign	Het
Golga5	G	T	12: 102,438,338 (GRCm39)	V18L	probably benign	Het
Il16	C	A	7: 83,310,484 (GRCm39)	R474M	probably damaging	Het
Itpr1	C	A	6: 108,316,515 (GRCm39)	Q71K	possibly damaging	Het
Kif21b	T	G	1: 136,100,605 (GRCm39)	L1562R	probably damaging	Het
Lamc2	T	C	1: 153,042,008 (GRCm39)	E42G	possibly damaging	Het
Mmp3	T	G	9: 7,446,001 (GRCm39)	L35R	probably benign	Het
Naip6	C	A	13: 100,452,780 (GRCm39)	G94W	probably damaging	Het
Nccrp1	G	A	7: 28,243,905 (GRCm39)	A226V	probably damaging	Het
Nckap5l	A	G	15: 99,323,564 (GRCm39)	Y980H	probably damaging	Het
Ncoa3	T	C	2: 165,911,277 (GRCm39)	S1345P	probably damaging	Het
Nop2	T	C	6: 125,117,813 (GRCm39)	S455P	probably damaging	Het
Nup93	T	C	8: 95,036,263 (GRCm39)	F689S	probably damaging	Het
Or5b112	T	C	19: 13,319,583 (GRCm39)	F154L	probably benign	Het
Plekhm1	T	A	11: 103,285,876 (GRCm39)	E186D	probably damaging	Het
Plxdc1	T	C	11: 97,869,390 (GRCm39)	Q66R	probably damaging	Het
Prkdc	T	G	16: 15,544,406 (GRCm39)	Y1799D	probably damaging	Het
Rasa2	A	G	9: 96,462,563 (GRCm39)	F220L	probably damaging	Het
Rftn1	T	C	17: 50,344,027 (GRCm39)	D87G	probably damaging	Het
Rgs6	C	T	12: 83,117,376 (GRCm39)	T266M	probably benign	Het
Sec16a	A	G	2: 26,326,054 (GRCm39)	Y1208H	probably damaging	Het
Slc12a1	G	T	2: 125,026,648 (GRCm39)	V428L	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Svep1	T	A	4: 58,135,441 (GRCm39)	T556S	probably benign	Het
Tanc2	T	A	11: 105,667,777 (GRCm39)	N119K	probably benign	Het
Tpgs1	T	A	10: 79,505,238 (GRCm39)		probably benign	Het
Tpm3-rs7	A	G	14: 113,552,370 (GRCm39)	E88G	probably damaging	Het
Tsr1	T	C	11: 74,791,204 (GRCm39)	V261A	probably benign	Het
Usp18	C	T	6: 121,238,050 (GRCm39)	T143I	probably benign	Het
Vmn2r24	T	C	6: 123,792,812 (GRCm39)	I713T	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Ccdc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Ccdc38	APN	10	93,405,797 (GRCm39)	critical splice donor site	probably null
IGL01986:Ccdc38	APN	10	93,415,705 (GRCm39)	missense	probably damaging	1.00
IGL02396:Ccdc38	APN	10	93,409,994 (GRCm39)	missense	possibly damaging	0.61
ANU23:Ccdc38	UTSW	10	93,405,797 (GRCm39)	critical splice donor site	probably null
R0004:Ccdc38	UTSW	10	93,409,964 (GRCm39)	missense	probably damaging	1.00
R0194:Ccdc38	UTSW	10	93,401,774 (GRCm39)	nonsense	probably null
R0371:Ccdc38	UTSW	10	93,398,674 (GRCm39)	nonsense	probably null
R1374:Ccdc38	UTSW	10	93,418,296 (GRCm39)	splice site	probably benign
R1388:Ccdc38	UTSW	10	93,417,702 (GRCm39)	splice site	probably benign
R1546:Ccdc38	UTSW	10	93,401,741 (GRCm39)	missense	probably benign	0.01
R2377:Ccdc38	UTSW	10	93,409,897 (GRCm39)	missense	probably damaging	1.00
R2419:Ccdc38	UTSW	10	93,384,837 (GRCm39)	missense	probably benign	0.23
R3949:Ccdc38	UTSW	10	93,386,081 (GRCm39)	missense	probably damaging	1.00
R5592:Ccdc38	UTSW	10	93,386,064 (GRCm39)	missense	possibly damaging	0.58
R5652:Ccdc38	UTSW	10	93,391,448 (GRCm39)	splice site	probably null
R5857:Ccdc38	UTSW	10	93,398,695 (GRCm39)	missense	possibly damaging	0.67
R5918:Ccdc38	UTSW	10	93,406,748 (GRCm39)	nonsense	probably null
R5919:Ccdc38	UTSW	10	93,414,700 (GRCm39)	missense	possibly damaging	0.95
R6057:Ccdc38	UTSW	10	93,417,608 (GRCm39)	missense	probably damaging	1.00
R6293:Ccdc38	UTSW	10	93,398,659 (GRCm39)	nonsense	probably null
R7511:Ccdc38	UTSW	10	93,398,662 (GRCm39)	missense	possibly damaging	0.92
R8006:Ccdc38	UTSW	10	93,391,448 (GRCm39)	splice site	probably null
R8206:Ccdc38	UTSW	10	93,399,146 (GRCm39)	missense	probably damaging	0.97
R8313:Ccdc38	UTSW	10	93,399,111 (GRCm39)	missense	probably damaging	1.00
R8904:Ccdc38	UTSW	10	93,411,197 (GRCm39)	missense	probably damaging	1.00
R9061:Ccdc38	UTSW	10	93,401,735 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc38	UTSW	10	93,398,738 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16