Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Ccdc121'

252922

Institutional Source

Beutler Lab

Gene Symbol

Ccdc121

Ensembl Gene

ENSMUSG00000029138

Gene Name

coiled-coil domain containing 121

Synonyms

4930548H24Rik

MMRRC Submission

040452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R2862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31643205-31645820 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 31643255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031020] [ENSMUST00000076264] [ENSMUST00000202244]

AlphaFold

Q9D496

Predicted Effect

probably benign
Transcript: ENSMUST00000031020

SMART Domains

Protein: ENSMUSP00000031020
Gene: ENSMUSG00000029138

Domain	Start	End	E-Value	Type
coiled coil region	151	195	N/A	INTRINSIC
Pfam:DUF4515	202	407	2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076264

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	92	106	N/A	INTRINSIC
Blast:ZnF_C2H2	172	197	2e-8	BLAST
ZnF_C2H2	200	223	3.78e-1	SMART
ZnF_C2H2	254	276	2.63e2	SMART
ZnF_C2H2	290	313	3.39e-3	SMART
ZnF_C2H2	408	430	7.37e1	SMART
ZnF_C2H2	442	465	3.11e-2	SMART
low complexity region	485	511	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201177

Predicted Effect

probably benign
Transcript: ENSMUST00000202244

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	92	106	N/A	INTRINSIC
Blast:ZnF_C2H2	172	197	1e-8	BLAST
ZnF_C2H2	200	223	1.6e-3	SMART
ZnF_C2H2	352	374	3.2e-1	SMART
ZnF_C2H2	386	409	1.4e-4	SMART
low complexity region	429	455	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202605

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lamp5	A	T	2: 135,900,866 (GRCm39)	H22L	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Mrps18b	G	A	17: 36,221,746 (GRCm39)	S101L	probably benign	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4c109	A	T	2: 88,817,664 (GRCm39)	I294K	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Slc35e4	A	T	11: 3,862,796 (GRCm39)	V131D	probably damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	Het

Other mutations in Ccdc121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Ccdc121	APN	5	31,644,771 (GRCm39)	missense	probably benign	0.00
IGL02009:Ccdc121	APN	5	31,644,835 (GRCm39)	missense	probably benign	0.00
FR4304:Ccdc121	UTSW	5	31,644,717 (GRCm39)	small deletion	probably benign
FR4340:Ccdc121	UTSW	5	31,644,717 (GRCm39)	small deletion	probably benign
FR4342:Ccdc121	UTSW	5	31,644,717 (GRCm39)	small deletion	probably benign
FR4589:Ccdc121	UTSW	5	31,644,717 (GRCm39)	small deletion	probably benign
LCD18:Ccdc121	UTSW	5	31,644,717 (GRCm39)	small deletion	probably benign
PIT4486001:Ccdc121	UTSW	5	31,645,087 (GRCm39)	missense	probably damaging	0.99
R0650:Ccdc121	UTSW	5	31,643,312 (GRCm39)	unclassified	probably benign
R1366:Ccdc121	UTSW	5	31,644,861 (GRCm39)	missense	probably benign	0.07
R2050:Ccdc121	UTSW	5	31,643,402 (GRCm39)	missense	possibly damaging	0.68
R2070:Ccdc121	UTSW	5	31,644,727 (GRCm39)	missense	possibly damaging	0.91
R3965:Ccdc121	UTSW	5	31,645,335 (GRCm39)	missense	probably benign	0.02
R4299:Ccdc121	UTSW	5	31,644,870 (GRCm39)	missense	possibly damaging	0.82
R4634:Ccdc121	UTSW	5	31,645,435 (GRCm39)	missense	probably benign	0.01
R4635:Ccdc121	UTSW	5	31,645,435 (GRCm39)	missense	probably benign	0.01
R4637:Ccdc121	UTSW	5	31,645,435 (GRCm39)	missense	probably benign	0.01
R4887:Ccdc121	UTSW	5	31,643,596 (GRCm39)	missense	probably benign	0.19
R5587:Ccdc121	UTSW	5	31,643,428 (GRCm39)	missense	probably benign
R5897:Ccdc121	UTSW	5	31,643,308 (GRCm39)	unclassified	probably benign
R6181:Ccdc121	UTSW	5	31,645,399 (GRCm39)	missense	probably damaging	0.98
R6183:Ccdc121	UTSW	5	31,645,320 (GRCm39)	missense	probably damaging	0.99
R8028:Ccdc121	UTSW	5	31,645,266 (GRCm39)	missense	possibly damaging	0.92
R8231:Ccdc121	UTSW	5	31,643,551 (GRCm39)	missense	probably benign	0.35
R9535:Ccdc121	UTSW	5	31,644,954 (GRCm39)	missense	probably benign	0.01
R9655:Ccdc121	UTSW	5	31,644,976 (GRCm39)	missense	probably benign	0.00
RF006:Ccdc121	UTSW	5	31,644,894 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGTGGTCTAAGGTCCCAGAC -3'
(R):5'- ACTTAGTCCTAGCAGGTCGAC -3'

Sequencing Primer
(F):5'- TCTAAGGTCCCAGACTCCGC -3'
(R):5'- AGGTCGACTGAATTTGCCC -3'

Posted On

2014-12-04