Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02323:Ccdc121rt2'

288319

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc121rt2

Ensembl Gene

ENSMUSG00000072722

Gene Name

coiled-coil domain containing 121, retrogene 2

Synonyms

Gm6588

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

112597292-112599604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112597600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 49 (Y49C)

Ref Sequence

ENSEMBL: ENSMUSP00000098441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075387] [ENSMUST00000079491] [ENSMUST00000100882] [ENSMUST00000197425] [ENSMUST00000212480] [ENSMUST00000212758]

AlphaFold

E9Q3K0

Predicted Effect

probably benign
Transcript: ENSMUST00000075387

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
CCP	813	870	8.04e-15	SMART
low complexity region	880	891	N/A	INTRINSIC
transmembrane domain	895	917	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079491

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
CCP	813	870	8.04e-15	SMART
low complexity region	878	892	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100882
AA Change: Y49C

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098441
Gene: ENSMUSG00000072722
AA Change: Y49C

Domain	Start	End	E-Value	Type
coiled coil region	159	180	N/A	INTRINSIC
Pfam:DUF4515	194	399	9.5e-82	PFAM
low complexity region	403	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197425

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
low complexity region	815	826	N/A	INTRINSIC
transmembrane domain	830	852	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200575

Predicted Effect

probably benign
Transcript: ENSMUST00000212480

Predicted Effect

probably benign
Transcript: ENSMUST00000212758

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,326 (GRCm39)	E344G	probably damaging	Het
Actrt2	T	C	4: 154,751,255 (GRCm39)	T294A	probably benign	Het
Afg1l	C	A	10: 42,330,506 (GRCm39)	E54*	probably null	Het
Ahi1	T	C	10: 20,847,933 (GRCm39)	I447T	probably damaging	Het
Akap6	T	C	12: 53,187,212 (GRCm39)	I1542T	probably benign	Het
Ankrd34c	A	C	9: 89,612,033 (GRCm39)	S103A	possibly damaging	Het
Apc	C	T	18: 34,448,863 (GRCm39)	Q1886*	probably null	Het
Bcas3	A	G	11: 85,386,671 (GRCm39)	T148A	probably damaging	Het
Bud13	A	G	9: 46,194,350 (GRCm39)	T8A	probably benign	Het
Casr	A	T	16: 36,330,072 (GRCm39)	Y421N	probably damaging	Het
Clasp2	T	C	9: 113,697,794 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,619,082 (GRCm39)	T686A	probably benign	Het
Cntln	T	A	4: 84,968,026 (GRCm39)	H748Q	probably benign	Het
Dmtf1	A	T	5: 9,170,056 (GRCm39)	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 77,899,152 (GRCm39)	K117R	probably damaging	Het
Eif2a	T	C	3: 58,456,024 (GRCm39)	M341T	possibly damaging	Het
Epg5	T	A	18: 78,056,047 (GRCm39)	Y1740*	probably null	Het
Fam149b	C	T	14: 20,413,369 (GRCm39)	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,778,899 (GRCm39)		probably null	Het
Fbxo3	T	A	2: 103,878,296 (GRCm39)	N232K	probably benign	Het
Gnl3	A	C	14: 30,739,359 (GRCm39)	H16Q	probably damaging	Het
Gpld1	T	G	13: 25,166,757 (GRCm39)	V669G	probably damaging	Het
Grik3	A	G	4: 125,579,783 (GRCm39)		probably benign	Het
Gzmg	A	C	14: 56,394,729 (GRCm39)	Y180D	probably benign	Het
H2-M9	A	T	17: 36,951,633 (GRCm39)	Y281N	probably damaging	Het
Katnip	T	A	7: 125,442,001 (GRCm39)	S637T	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,188,940 (GRCm39)	I125F	probably damaging	Het
Nfam1	T	A	15: 82,907,152 (GRCm39)	N15I	probably benign	Het
Nol8	T	A	13: 49,808,721 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,348 (GRCm39)	V6483A	possibly damaging	Het
Or2a56	A	T	6: 42,932,917 (GRCm39)	I162F	probably benign	Het
Osbpl3	A	G	6: 50,323,306 (GRCm39)		probably null	Het
Plaat3	G	A	19: 7,552,357 (GRCm39)	W24*	probably null	Het
Ppfibp2	A	T	7: 107,337,836 (GRCm39)	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,183,772 (GRCm39)	V277A	probably damaging	Het
Robo3	G	A	9: 37,333,497 (GRCm39)	A716V	probably benign	Het
Scart1	G	T	7: 139,808,572 (GRCm39)	A828S	probably benign	Het
Semp2l1	A	T	1: 32,584,785 (GRCm39)	L375*	probably null	Het
Slc29a4	A	G	5: 142,703,407 (GRCm39)	E227G	probably damaging	Het
Slf1	T	C	13: 77,199,413 (GRCm39)	D656G	possibly damaging	Het
Sox1	A	G	8: 12,446,692 (GRCm39)	H111R	possibly damaging	Het
Spmip9	A	G	6: 70,890,679 (GRCm39)		probably benign	Het
Svep1	G	A	4: 58,070,236 (GRCm39)	Q2517*	probably null	Het
Syndig1	G	T	2: 149,741,707 (GRCm39)	V98L	probably benign	Het
Synpo2	T	C	3: 122,911,183 (GRCm39)	E154G	probably benign	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tmem200a	T	C	10: 25,869,328 (GRCm39)	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,479,009 (GRCm39)	T100S	probably damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trim12c	C	T	7: 103,997,473 (GRCm39)	A28T	probably benign	Het
Trpc7	C	A	13: 56,931,564 (GRCm39)	V595L	possibly damaging	Het
Ttc39c	A	G	18: 12,869,800 (GRCm39)	R575G	probably null	Het
Ttn	T	G	2: 76,681,919 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,553,609 (GRCm39)	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,398,423 (GRCm39)		probably benign	Het
Uqcrb	A	T	13: 67,050,874 (GRCm39)		probably benign	Het
Usp33	T	A	3: 152,076,024 (GRCm39)	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,816,399 (GRCm39)	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,286,113 (GRCm39)	I204F	probably damaging	Het

Other mutations in Ccdc121rt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0785:Ccdc121rt2	UTSW	5	112,598,434 (GRCm39)	missense	probably benign	0.00
R1938:Ccdc121rt2	UTSW	5	112,597,667 (GRCm39)	nonsense	probably null
R2047:Ccdc121rt2	UTSW	5	112,598,575 (GRCm39)	missense	probably benign	0.00
R4116:Ccdc121rt2	UTSW	5	112,598,377 (GRCm39)	missense	probably damaging	0.98
R4608:Ccdc121rt2	UTSW	5	112,597,764 (GRCm39)	missense	possibly damaging	0.85
R4841:Ccdc121rt2	UTSW	5	112,598,106 (GRCm39)	nonsense	probably null
R4842:Ccdc121rt2	UTSW	5	112,598,106 (GRCm39)	nonsense	probably null
R6301:Ccdc121rt2	UTSW	5	112,598,334 (GRCm39)	missense	possibly damaging	0.47
R6418:Ccdc121rt2	UTSW	5	112,598,019 (GRCm39)	missense	probably benign	0.05
R7395:Ccdc121rt2	UTSW	5	112,598,035 (GRCm39)	missense	possibly damaging	0.93
R7799:Ccdc121rt2	UTSW	5	112,597,698 (GRCm39)	missense	not run
R7991:Ccdc121rt2	UTSW	5	112,598,791 (GRCm39)	missense	probably benign
R8188:Ccdc121rt2	UTSW	5	112,597,993 (GRCm39)	missense	possibly damaging	0.62
R8343:Ccdc121rt2	UTSW	5	112,598,653 (GRCm39)	missense	probably benign	0.01
R8773:Ccdc121rt2	UTSW	5	112,597,681 (GRCm39)	missense	probably benign	0.00
R8966:Ccdc121rt2	UTSW	5	112,598,103 (GRCm39)	missense	probably damaging	0.99
R9089:Ccdc121rt2	UTSW	5	112,598,757 (GRCm39)	missense	probably damaging	0.97
RF013:Ccdc121rt2	UTSW	5	112,597,937 (GRCm39)	missense	probably benign	0.00
X0062:Ccdc121rt2	UTSW	5	112,598,445 (GRCm39)	missense	probably benign	0.01
Z1176:Ccdc121rt2	UTSW	5	112,597,741 (GRCm39)	missense	probably benign
Z1177:Ccdc121rt2	UTSW	5	112,598,827 (GRCm39)	frame shift	probably null
Z1177:Ccdc121rt2	UTSW	5	112,597,872 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16