Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Ccdc121'

226320

Institutional Source

Beutler Lab

Gene Symbol

Ccdc121

Ensembl Gene

ENSMUSG00000029138

Gene Name

coiled-coil domain containing 121

Synonyms

4930548H24Rik

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

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

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31643205-31645820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31643402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 44 (I44T)

Ref Sequence

ENSEMBL: ENSMUSP00000031020 (fasta)

Gene Model

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

AlphaFold

Q9D496

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031020
AA Change: I44T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031020
Gene: ENSMUSG00000029138
AA Change: I44T

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: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly damaging	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
R2070:Ccdc121	UTSW	5	31,644,727 (GRCm39)	missense	possibly damaging	0.91
R2862:Ccdc121	UTSW	5	31,643,255 (GRCm39)	unclassified	probably benign
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'- TGTGCAGGGAACATTTGACC -3'
(R):5'- AAGAACTGGTGCCACACGTC -3'

Sequencing Primer
(F):5'- ATTTGACCCCCAATCTGAGGG -3'
(R):5'- ACACGTCTGCCTTTGGG -3'

Posted On

2014-09-17