Mutagenetix > Incidental Mutation

Incidental Mutation 'R0706:Ccdc175'

63144

Institutional Source

Beutler Lab

Gene Symbol

Ccdc175

Ensembl Gene

ENSMUSG00000021086

Gene Name

coiled-coil domain containing 175

Synonyms

4930403N07Rik

MMRRC Submission

038889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0706 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

72148074-72231803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72186722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 374 (T374I)

Ref Sequence

ENSEMBL: ENSMUSP00000021494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021494]

AlphaFold

E9PVB3

Predicted Effect

probably benign
Transcript: ENSMUST00000021494
AA Change: T374I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: T374I

Domain	Start	End	E-Value	Type
coiled coil region	129	164	N/A	INTRINSIC
coiled coil region	205	235	N/A	INTRINSIC
coiled coil region	295	383	N/A	INTRINSIC
low complexity region	470	490	N/A	INTRINSIC
coiled coil region	517	537	N/A	INTRINSIC
low complexity region	803	819	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef15	C	T	11: 68,845,402 (GRCm39)	R150H	probably damaging	Het
Btnl2	T	A	17: 34,587,636 (GRCm39)	N493K	probably benign	Het
Dock4	A	G	12: 40,752,922 (GRCm39)	S419G	probably damaging	Het
Ireb2	A	G	9: 54,799,770 (GRCm39)	T404A	probably benign	Het
Klk1b5	C	T	7: 43,867,938 (GRCm39)	P37S	probably damaging	Het
Lrrc32	C	T	7: 98,148,917 (GRCm39)	R566W	probably damaging	Het
Med12l	A	G	3: 59,169,401 (GRCm39)	N1597S	probably damaging	Het
Mrpl50	T	C	4: 49,514,198 (GRCm39)	S158G	probably benign	Het
Mycbpap	G	T	11: 94,404,612 (GRCm39)	Y110*	probably null	Het
Nphp4	G	A	4: 152,640,074 (GRCm39)	A987T	probably damaging	Het
Reln	C	T	5: 22,101,809 (GRCm39)	V3374I	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sis	T	C	3: 72,859,864 (GRCm39)	Q297R	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tprn	A	G	2: 25,154,503 (GRCm39)	I602V	probably damaging	Het
Xpo1	T	A	11: 23,230,441 (GRCm39)	V276E	probably benign	Het

Other mutations in Ccdc175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Ccdc175	APN	12	72,177,916 (GRCm39)	splice site	probably benign
IGL01805:Ccdc175	APN	12	72,176,003 (GRCm39)	splice site	probably benign
IGL01807:Ccdc175	APN	12	72,206,616 (GRCm39)	missense	probably benign	0.02
IGL01985:Ccdc175	APN	12	72,175,052 (GRCm39)	nonsense	probably null
IGL02719:Ccdc175	APN	12	72,221,899 (GRCm39)	missense	probably damaging	0.97
IGL02944:Ccdc175	APN	12	72,164,667 (GRCm39)	missense	probably benign	0.02
IGL03113:Ccdc175	APN	12	72,191,557 (GRCm39)	missense	probably benign	0.00
IGL03143:Ccdc175	APN	12	72,182,832 (GRCm39)	missense	probably benign	0.03
IGL03356:Ccdc175	APN	12	72,186,667 (GRCm39)	splice site	probably null
R0009:Ccdc175	UTSW	12	72,182,739 (GRCm39)	missense	possibly damaging	0.87
R0233:Ccdc175	UTSW	12	72,152,650 (GRCm39)	missense	probably benign	0.00
R0233:Ccdc175	UTSW	12	72,152,650 (GRCm39)	missense	probably benign	0.00
R0609:Ccdc175	UTSW	12	72,204,281 (GRCm39)	missense	probably benign	0.07
R0948:Ccdc175	UTSW	12	72,177,897 (GRCm39)	missense	probably damaging	1.00
R1054:Ccdc175	UTSW	12	72,225,318 (GRCm39)	missense	possibly damaging	0.85
R1166:Ccdc175	UTSW	12	72,152,706 (GRCm39)	missense	probably damaging	1.00
R1481:Ccdc175	UTSW	12	72,148,722 (GRCm39)	unclassified	probably benign
R1860:Ccdc175	UTSW	12	72,152,700 (GRCm39)	missense	probably benign
R2077:Ccdc175	UTSW	12	72,186,794 (GRCm39)	missense	possibly damaging	0.54
R3806:Ccdc175	UTSW	12	72,227,598 (GRCm39)	missense	possibly damaging	0.72
R3879:Ccdc175	UTSW	12	72,182,792 (GRCm39)	missense	probably damaging	1.00
R3887:Ccdc175	UTSW	12	72,182,822 (GRCm39)	missense	possibly damaging	0.65
R4557:Ccdc175	UTSW	12	72,175,080 (GRCm39)	missense	probably benign	0.08
R4585:Ccdc175	UTSW	12	72,221,953 (GRCm39)	missense	possibly damaging	0.65
R4686:Ccdc175	UTSW	12	72,159,052 (GRCm39)	missense	probably damaging	1.00
R4766:Ccdc175	UTSW	12	72,158,979 (GRCm39)	missense	probably benign	0.00
R4773:Ccdc175	UTSW	12	72,182,822 (GRCm39)	missense	probably damaging	0.99
R4909:Ccdc175	UTSW	12	72,206,527 (GRCm39)	missense	probably damaging	1.00
R4964:Ccdc175	UTSW	12	72,227,619 (GRCm39)	missense	probably damaging	1.00
R5338:Ccdc175	UTSW	12	72,231,745 (GRCm39)	missense	probably damaging	0.99
R5539:Ccdc175	UTSW	12	72,191,587 (GRCm39)	missense	probably benign	0.00
R5897:Ccdc175	UTSW	12	72,206,578 (GRCm39)	missense	probably benign	0.06
R6128:Ccdc175	UTSW	12	72,175,933 (GRCm39)	missense	probably benign	0.07
R6520:Ccdc175	UTSW	12	72,186,804 (GRCm39)	missense	probably damaging	0.98
R6523:Ccdc175	UTSW	12	72,191,565 (GRCm39)	missense	probably benign	0.01
R6917:Ccdc175	UTSW	12	72,231,679 (GRCm39)	missense	probably damaging	1.00
R7035:Ccdc175	UTSW	12	72,202,419 (GRCm39)	missense	probably benign	0.01
R7097:Ccdc175	UTSW	12	72,175,183 (GRCm39)	splice site	probably null
R7339:Ccdc175	UTSW	12	72,182,815 (GRCm39)	missense	probably damaging	1.00
R7450:Ccdc175	UTSW	12	72,202,447 (GRCm39)	missense	possibly damaging	0.93
R7481:Ccdc175	UTSW	12	72,202,398 (GRCm39)	missense	probably benign	0.00
R7676:Ccdc175	UTSW	12	72,148,821 (GRCm39)	missense	possibly damaging	0.57
R8045:Ccdc175	UTSW	12	72,202,676 (GRCm39)	intron	probably benign
R8383:Ccdc175	UTSW	12	72,155,952 (GRCm39)	missense	possibly damaging	0.95
R8470:Ccdc175	UTSW	12	72,202,392 (GRCm39)	missense	probably damaging	0.97
R9211:Ccdc175	UTSW	12	72,153,458 (GRCm39)	missense	probably damaging	1.00
R9739:Ccdc175	UTSW	12	72,186,792 (GRCm39)	missense	probably benign	0.00
Z1088:Ccdc175	UTSW	12	72,175,153 (GRCm39)	missense	probably benign	0.01
Z1176:Ccdc175	UTSW	12	72,159,082 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGGCTCATTGCAAAGTCTCACACAG -3'
(R):5'- CTCCAAAGCAGACAGTTGCATGTTC -3'

Sequencing Primer
(F):5'- GGATAATAAAAGCATTCCTTAGCACC -3'
(R):5'- ctctctctctctctctctccc -3'

Posted On

2013-07-30