Mutagenetix > Incidental Mutation

Incidental Mutation 'R9059:Ccdc142'

688864

Institutional Source

Beutler Lab

Gene Symbol

Ccdc142

Ensembl Gene

ENSMUSG00000107499

Gene Name

coiled-coil domain containing 142

Synonyms

A230058J24Rik

MMRRC Submission

068885-MU

Accession Numbers

Essential gene?

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

Stock #

R9059 (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 83079400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 246 (C246R)

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: C181R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098811
Gene: ENSMUSG00000079511
AA Change: C181R

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: C246R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098812
Gene: ENSMUSG00000107499
AA Change: C246R

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

0.2671

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,124,732 (GRCm39)	D48E	probably benign	Het
Ablim2	A	G	5: 35,959,850 (GRCm39)	T101A	probably damaging	Het
Acot8	A	G	2: 164,634,829 (GRCm39)	S316P	probably benign	Het
Acta2	G	T	19: 34,219,155 (GRCm39)	A349D	possibly damaging	Het
Adgrv1	C	A	13: 81,562,692 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,455,073 (GRCm39)	D57G	probably damaging	Het
Azin2	A	G	4: 128,828,440 (GRCm39)	Y351H	probably benign	Het
Col25a1	C	A	3: 130,268,499 (GRCm39)	Q179K	unknown	Het
Ddx46	C	T	13: 55,799,921 (GRCm39)	A277V	probably benign	Het
Diaph1	T	A	18: 38,022,798 (GRCm39)	N792I	possibly damaging	Het
Dnah11	G	A	12: 118,094,578 (GRCm39)	P830L	probably benign	Het
Dnah3	C	G	7: 119,684,368 (GRCm39)	R252S	probably benign	Het
Dnah5	A	G	15: 28,245,812 (GRCm39)	D550G	probably benign	Het
Dph3	T	C	14: 31,807,384 (GRCm39)	N31D	probably benign	Het
Dsg1c	A	T	18: 20,408,306 (GRCm39)	T452S	probably damaging	Het
Dsg4	T	A	18: 20,604,182 (GRCm39)	M883K	possibly damaging	Het
Efcab3	T	C	11: 104,642,689 (GRCm39)	V1104A	possibly damaging	Het
Epn1	T	G	7: 5,098,067 (GRCm39)	S293A	probably benign	Het
Fggy	T	A	4: 95,688,841 (GRCm39)	Y318*	probably null	Het
Hip1	A	G	5: 135,457,597 (GRCm39)	L703P	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igf2r	GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC	GCAGCCCTCCATAGGCGC	17: 12,970,180 (GRCm39)		probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Larp4	A	G	15: 99,889,693 (GRCm39)	E204G	probably benign	Het
Lbr	A	G	1: 181,645,119 (GRCm39)	I511T		Het
Lingo3	G	T	10: 80,670,523 (GRCm39)	T469K	probably benign	Het
Lrrc30	A	T	17: 67,938,798 (GRCm39)	W261R	probably damaging	Het
Man2b1	T	C	8: 85,818,155 (GRCm39)	V442A	probably damaging	Het
Mroh3	T	A	1: 136,109,533 (GRCm39)	R891S	probably benign	Het
Mtcl1	T	A	17: 66,650,606 (GRCm39)	M1620L	probably benign	Het
Myo18a	T	C	11: 77,668,899 (GRCm39)	V253A	possibly damaging	Het
Or5b101	A	T	19: 13,005,277 (GRCm39)	C139S	probably damaging	Het
Pcdhb22	A	T	18: 37,652,722 (GRCm39)	N140Y	probably damaging	Het
Ppp1r9b	T	C	11: 94,883,254 (GRCm39)	V294A	probably benign	Het
Ptk7	A	T	17: 46,877,117 (GRCm39)	D980E	probably damaging	Het
Rdh11	T	A	12: 79,238,713 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,365,805 (GRCm39)	L558R	probably damaging	Het
Slc22a26	C	T	19: 7,762,559 (GRCm39)	M460I	probably benign	Het
Smc1b	G	A	15: 85,004,875 (GRCm39)	Q400*	probably null	Het
Spg11	T	C	2: 121,918,788 (GRCm39)	E947G	probably damaging	Het
Stab1	T	C	14: 30,876,805 (GRCm39)	I840V	probably benign	Het
Tlk1	T	C	2: 70,617,277 (GRCm39)	T68A	possibly damaging	Het
Traip	A	G	9: 107,840,549 (GRCm39)	I273V	probably benign	Het
Trim30c	T	G	7: 104,031,272 (GRCm39)	*514C	probably null	Het
U2surp	A	G	9: 95,363,716 (GRCm39)	Y615H	probably 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
R8045:Ccdc142	UTSW	6	83,080,407 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCTACCACACTCTGCAGGGAC -3'
(R):5'- CTCGCTTACCTTGACACAGTG -3'

Sequencing Primer
(F):5'- CACTCTGCAGGGACATTCC -3'
(R):5'- TTGACACAGTGCCTGACTCAG -3'

Posted On

2021-11-19