Mutagenetix > Incidental Mutation

Incidental Mutation 'R7948:Ccdc125'

615992

Institutional Source

Beutler Lab

Gene Symbol

Ccdc125

Ensembl Gene

ENSMUSG00000048924

Gene Name

coiled-coil domain containing 125

Synonyms

5830436D01Rik

MMRRC Submission

045993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7948 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100806225-100833748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100832910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 496 (T496A)

Ref Sequence

ENSEMBL: ENSMUSP00000058484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057325] [ENSMUST00000170347]

AlphaFold

Q5U465

Predicted Effect

probably benign
Transcript: ENSMUST00000057325
AA Change: T496A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058484
Gene: ENSMUSG00000048924
AA Change: T496A

Domain	Start	End	E-Value	Type
coiled coil region	101	193	N/A	INTRINSIC
coiled coil region	286	308	N/A	INTRINSIC
Blast:ETS	362	447	1e-35	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000170347

SMART Domains

Protein: ENSMUSP00000130107
Gene: ENSMUSG00000048924

Domain	Start	End	E-Value	Type
coiled coil region	101	151	N/A	INTRINSIC
coiled coil region	260	282	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	CGGTCTAGCTGAGCAGGAGGCAGCTCAGG	CGG	14: 70,394,815 (GRCm39)		probably null	Het
Abca8a	A	T	11: 109,941,805 (GRCm39)	Y1155N	probably benign	Het
Adcy8	C	T	15: 64,687,199 (GRCm39)	R435K	possibly damaging	Het
Adgrv1	C	A	13: 81,707,648 (GRCm39)	V1253F	probably damaging	Het
Adgrv1	T	C	13: 81,707,707 (GRCm39)	D1233G	probably damaging	Het
Baz2a	G	A	10: 127,961,194 (GRCm39)	R1639H	possibly damaging	Het
Cntnap5a	A	G	1: 116,508,258 (GRCm39)	M1257V	probably benign	Het
Cpne3	A	G	4: 19,528,186 (GRCm39)		probably null	Het
Cts3	T	C	13: 61,713,863 (GRCm39)	E288G	probably benign	Het
Deup1	T	C	9: 15,521,944 (GRCm39)	K74E	possibly damaging	Het
Epn1	T	A	7: 5,092,992 (GRCm39)	Y101*	probably null	Het
Ercc4	A	G	16: 12,948,049 (GRCm39)	D422G	probably benign	Het
Exoc6	A	C	19: 37,565,422 (GRCm39)	N166T	probably benign	Het
Fam89a	T	C	8: 125,478,409 (GRCm39)	Y47C	probably damaging	Het
Fbn1	C	A	2: 125,183,219 (GRCm39)	Q1753H	probably damaging	Het
Gal3st4	C	T	5: 138,269,262 (GRCm39)	R66Q	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Golm1	C	A	13: 59,812,011 (GRCm39)		probably null	Het
Gtpbp3	A	G	8: 71,945,230 (GRCm39)	H434R	probably damaging	Het
Hbegf	A	G	18: 36,639,752 (GRCm39)	L194S	possibly damaging	Het
Igsf10	A	G	3: 59,239,279 (GRCm39)	S301P	probably benign	Het
Il9r	A	C	11: 32,144,486 (GRCm39)	C106W	probably damaging	Het
Lama5	T	C	2: 179,843,994 (GRCm39)	D389G	probably damaging	Het
Lyst	T	A	13: 13,921,174 (GRCm39)	D3373E	possibly damaging	Het
Mkrn1	T	A	6: 39,377,344 (GRCm39)	Y361F	probably benign	Het
Mtrex	C	T	13: 113,058,296 (GRCm39)	R45Q	probably benign	Het
Muc16	A	T	9: 18,553,786 (GRCm39)	I4169N	unknown	Het
Myo7a	C	T	7: 97,724,236 (GRCm39)	G1150S	probably damaging	Het
Myom2	A	G	8: 15,135,306 (GRCm39)	D503G	probably benign	Het
Nmnat3	A	G	9: 98,281,535 (GRCm39)	I46V	probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Nrros	A	T	16: 31,981,076 (GRCm39)	N17K	unknown	Het
Or51a39	C	T	7: 102,362,895 (GRCm39)	V242I	probably benign	Het
Patj	A	T	4: 98,312,547 (GRCm39)	K295M	probably damaging	Het
Pax6	A	G	2: 105,516,222 (GRCm39)	T167A	probably benign	Het
Pclo	T	A	5: 14,815,180 (GRCm39)	L1212*	probably null	Het
Peg3	T	A	7: 6,711,781 (GRCm39)	Y1147F	probably damaging	Het
Ppp2r5c	T	A	12: 110,432,420 (GRCm39)	N77K	probably benign	Het
Prickle2	T	C	6: 92,393,903 (GRCm39)	I257V	possibly damaging	Het
Ptprc	G	A	1: 137,992,314 (GRCm39)	T1132I	probably benign	Het
Serpinb6a	G	A	13: 34,107,003 (GRCm39)	S183L	probably benign	Het
Slc6a15	T	A	10: 103,240,156 (GRCm39)	M293K	possibly damaging	Het
Tmem131	A	T	1: 36,833,229 (GRCm39)	W1749R	probably damaging	Het
Trpm8	T	A	1: 88,302,091 (GRCm39)	Y1020*	probably null	Het
Ttn	G	T	2: 76,598,523 (GRCm39)	Y19463*	probably null	Het
Tubgcp5	T	A	7: 55,443,996 (GRCm39)	D18E	probably benign	Het
Ubtd1	T	A	19: 42,022,174 (GRCm39)	F149I	probably benign	Het
Xirp2	A	G	2: 67,349,658 (GRCm39)	K3279R	possibly damaging	Het
Zfp236	T	C	18: 82,642,540 (GRCm39)	T1117A	probably damaging	Het
Zfp945	A	T	17: 23,071,096 (GRCm39)	C289S	unknown	Het

Other mutations in Ccdc125

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01888:Ccdc125	APN	13	100,823,610 (GRCm39)	splice site	probably benign
IGL02867:Ccdc125	APN	13	100,820,790 (GRCm39)	splice site	probably benign
R0002:Ccdc125	UTSW	13	100,830,114 (GRCm39)	nonsense	probably null
R0014:Ccdc125	UTSW	13	100,820,846 (GRCm39)	missense	possibly damaging	0.82
R0717:Ccdc125	UTSW	13	100,826,866 (GRCm39)	missense	probably damaging	0.99
R1661:Ccdc125	UTSW	13	100,830,081 (GRCm39)	missense	probably benign	0.37
R1665:Ccdc125	UTSW	13	100,830,081 (GRCm39)	missense	probably benign	0.37
R3118:Ccdc125	UTSW	13	100,826,827 (GRCm39)	missense	possibly damaging	0.46
R3751:Ccdc125	UTSW	13	100,814,459 (GRCm39)	missense	possibly damaging	0.90
R4415:Ccdc125	UTSW	13	100,832,817 (GRCm39)	missense	possibly damaging	0.83
R4838:Ccdc125	UTSW	13	100,814,453 (GRCm39)	missense	possibly damaging	0.52
R5734:Ccdc125	UTSW	13	100,823,622 (GRCm39)	missense	possibly damaging	0.66
R5812:Ccdc125	UTSW	13	100,820,812 (GRCm39)	missense	probably damaging	1.00
R6031:Ccdc125	UTSW	13	100,820,877 (GRCm39)	splice site	probably null
R6031:Ccdc125	UTSW	13	100,820,877 (GRCm39)	splice site	probably null
R6419:Ccdc125	UTSW	13	100,826,834 (GRCm39)	missense	probably damaging	1.00
R6456:Ccdc125	UTSW	13	100,832,817 (GRCm39)	missense	possibly damaging	0.83
R6733:Ccdc125	UTSW	13	100,830,995 (GRCm39)	missense	probably benign	0.04
R7183:Ccdc125	UTSW	13	100,826,866 (GRCm39)	missense	possibly damaging	0.90
R7354:Ccdc125	UTSW	13	100,814,382 (GRCm39)	splice site	probably null
R7644:Ccdc125	UTSW	13	100,814,884 (GRCm39)	splice site	probably null
R7910:Ccdc125	UTSW	13	100,819,327 (GRCm39)	missense	possibly damaging	0.83
R7973:Ccdc125	UTSW	13	100,806,331 (GRCm39)	start gained	probably benign
R8669:Ccdc125	UTSW	13	100,832,683 (GRCm39)	missense	probably damaging	0.97
R8695:Ccdc125	UTSW	13	100,814,552 (GRCm39)	missense	probably benign
R8736:Ccdc125	UTSW	13	100,815,833 (GRCm39)	missense	possibly damaging	0.83
R9297:Ccdc125	UTSW	13	100,832,920 (GRCm39)	missense	probably damaging	0.97
R9318:Ccdc125	UTSW	13	100,832,920 (GRCm39)	missense	probably damaging	0.97
R9424:Ccdc125	UTSW	13	100,820,876 (GRCm39)	missense	possibly damaging	0.90
R9513:Ccdc125	UTSW	13	100,826,875 (GRCm39)	missense	probably benign	0.15
X0027:Ccdc125	UTSW	13	100,818,353 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCATTCAAAACGGCCTG -3'
(R):5'- GCCTACAGCGTCTTCATATTGAC -3'

Sequencing Primer
(F):5'- TTCAAAACGGCCTGGCACG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2020-01-23