Mutagenetix > Incidental Mutation

Incidental Mutation 'R8045:Ccdc142'

618707

Institutional Source

Beutler Lab

Gene Symbol

Ccdc142

Ensembl Gene

ENSMUSG00000107499

Gene Name

coiled-coil domain containing 142

Synonyms

A230058J24Rik

MMRRC Submission

067482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8045 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83078582-83085375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83080407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 406 (L406P)

Ref Sequence

ENSEMBL: ENSMUSP00000098812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101253] [ENSMUST00000101254]

AlphaFold

Q8CAI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000101253
AA Change: L341P

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

SMART Domains

Protein: ENSMUSP00000098811
Gene: ENSMUSG00000079511
AA Change: L341P

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	70	91	N/A	INTRINSIC
low complexity region	102	118	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	238	263	N/A	INTRINSIC
Pfam:CCDC142	286	714	1.6e-159	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000101254
AA Change: L406P

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

SMART Domains

Protein: ENSMUSP00000098812
Gene: ENSMUSG00000107499
AA Change: L406P

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	70	91	N/A	INTRINSIC
low complexity region	102	118	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	238	263	N/A	INTRINSIC
Pfam:CCDC142	279	714	8.5e-174	PFAM

Meta Mutation Damage Score

0.5815

Coding Region Coverage

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

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Anks1b	A	G	10: 90,516,722 (GRCm39)	I906V	probably benign	Het
Arhgap29	C	A	3: 121,801,211 (GRCm39)		silent	Het
Casz1	A	G	4: 149,017,236 (GRCm39)	D175G	probably damaging	Het
Ccdc148	A	G	2: 58,892,083 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,202,676 (GRCm39)		probably benign	Het
Ccdc192	A	T	18: 57,863,991 (GRCm39)	D265V	probably damaging	Het
Cebpz	A	G	17: 79,239,585 (GRCm39)	I612T	probably damaging	Het
Cfhr4	T	A	1: 139,661,243 (GRCm39)	K535N	probably damaging	Het
Clcn1	T	C	6: 42,267,628 (GRCm39)	Y137H	probably damaging	Het
Clint1	T	A	11: 45,781,566 (GRCm39)	I212N	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Crnkl1	G	A	2: 145,774,851 (GRCm39)	T29M	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Disp1	T	C	1: 182,870,794 (GRCm39)	Y542C	probably damaging	Het
Gm15446	A	G	5: 110,088,394 (GRCm39)	T36A	probably damaging	Het
Herc2	T	C	7: 55,834,648 (GRCm39)	C3209R	probably damaging	Het
Igf2bp2	T	A	16: 21,902,728 (GRCm39)	D117V	possibly damaging	Het
Lta4h	A	G	10: 93,304,968 (GRCm39)	Y257C	probably damaging	Het
Mamstr	T	A	7: 45,293,827 (GRCm39)	L301Q	probably damaging	Het
Mllt3	A	G	4: 87,759,350 (GRCm39)	S233P	probably damaging	Het
Myh7b	A	T	2: 155,455,101 (GRCm39)	D42V	probably benign	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or56a41	A	T	7: 104,740,190 (GRCm39)	S219T	probably benign	Het
Or5h25	A	T	16: 58,930,402 (GRCm39)	N190K	probably benign	Het
Pde11a	G	A	2: 75,853,072 (GRCm39)	L849F	probably damaging	Het
Prpf38b	T	C	3: 108,811,350 (GRCm39)	K505R	unknown	Het
Rbbp4	A	G	4: 129,211,693 (GRCm39)	S355P	probably benign	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Sema6c	C	T	3: 95,080,535 (GRCm39)	S943L	probably benign	Het
Slc27a3	A	G	3: 90,294,449 (GRCm39)	F441L	probably damaging	Het
Taar2	T	C	10: 23,817,386 (GRCm39)	W309R	probably damaging	Het
Topors	A	G	4: 40,261,988 (GRCm39)	V432A	probably benign	Het
Vmn1r121	T	G	7: 20,831,829 (GRCm39)	S204R	probably damaging	Het
Wdr20	T	A	12: 110,759,753 (GRCm39)	L213H	probably damaging	Het
Zfp512b	A	G	2: 181,226,617 (GRCm39)	*880R	probably null	Het
Zfp652	T	C	11: 95,640,483 (GRCm39)	V136A	possibly damaging	Het

Other mutations in Ccdc142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4515001:Ccdc142	UTSW	6	83,080,238 (GRCm39)	missense	probably benign	0.05
R0636:Ccdc142	UTSW	6	83,084,179 (GRCm39)	unclassified	probably benign
R1828:Ccdc142	UTSW	6	83,084,462 (GRCm39)	missense	probably damaging	1.00
R1973:Ccdc142	UTSW	6	83,079,544 (GRCm39)	missense	probably benign
R2143:Ccdc142	UTSW	6	83,079,203 (GRCm39)	missense	probably damaging	1.00
R2208:Ccdc142	UTSW	6	83,084,941 (GRCm39)	splice site	probably null
R4329:Ccdc142	UTSW	6	83,083,997 (GRCm39)	unclassified	probably benign
R5230:Ccdc142	UTSW	6	83,084,777 (GRCm39)	missense	probably damaging	1.00
R5619:Ccdc142	UTSW	6	83,080,603 (GRCm39)	missense	probably benign	0.09
R7498:Ccdc142	UTSW	6	83,080,212 (GRCm39)	missense	possibly damaging	0.94
R7710:Ccdc142	UTSW	6	83,078,677 (GRCm39)	missense	probably benign	0.00
R7759:Ccdc142	UTSW	6	83,084,912 (GRCm39)	missense	probably benign	0.04
R8217:Ccdc142	UTSW	6	83,080,197 (GRCm39)	missense	probably damaging	1.00
R8706:Ccdc142	UTSW	6	83,080,678 (GRCm39)	missense	probably damaging	1.00
R8712:Ccdc142	UTSW	6	83,079,233 (GRCm39)	missense	probably damaging	1.00
R8974:Ccdc142	UTSW	6	83,078,963 (GRCm39)	missense	probably benign	0.00
R9059:Ccdc142	UTSW	6	83,079,400 (GRCm39)	missense	probably damaging	0.99
R9608:Ccdc142	UTSW	6	83,084,082 (GRCm39)	nonsense	probably null
R9631:Ccdc142	UTSW	6	83,084,142 (GRCm39)	missense	probably benign	0.10
R9647:Ccdc142	UTSW	6	83,079,259 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAACTTAGGCTGTGTCCGC -3'
(R):5'- AATTGTGGATCTCTAGGCCCAG -3'

Sequencing Primer
(F):5'- GCCTGCAGGTGAGACAG -3'
(R):5'- TGCTCCACCTCCAGAGTGAG -3'

Posted On

2020-01-23