Mutagenetix > Incidental Mutation

Incidental Mutation 'R9322:Ccdc121rt3'

706258

Institutional Source

Beutler Lab

Gene Symbol

Ccdc121rt3

Ensembl Gene

ENSMUSG00000051503

Gene Name

coiled-coil domain containing 121, retrogene 3

Synonyms

Gm6583

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112501667-112503899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112503272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 144 (Y144F)

Ref Sequence

ENSEMBL: ENSMUSP00000049839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035279] [ENSMUST00000051117] [ENSMUST00000112359]

AlphaFold

E9Q8Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000035279

SMART Domains

Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328

Domain	Start	End	E-Value	Type
low complexity region	171	180	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
low complexity region	514	529	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000051117
AA Change: Y144F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049839
Gene: ENSMUSG00000051503
AA Change: Y144F

Domain	Start	End	E-Value	Type
low complexity region	71	83	N/A	INTRINSIC
coiled coil region	159	193	N/A	INTRINSIC
Pfam:DUF4515	199	404	1.2e-79	PFAM
low complexity region	406	422	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112359

SMART Domains

Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328

Domain	Start	End	E-Value	Type
low complexity region	171	180	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
low complexity region	514	529	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,192,331 (GRCm39)	V727A	probably damaging	Het
Arhgef33	T	A	17: 80,677,818 (GRCm39)	L455*	probably null	Het
Arnt	T	C	3: 95,397,929 (GRCm39)	S591P	probably benign	Het
Asic4	A	G	1: 75,446,462 (GRCm39)	M335V	probably benign	Het
Atp1a2	A	G	1: 172,107,625 (GRCm39)	S665P	possibly damaging	Het
Cat	T	C	2: 103,303,333 (GRCm39)	N148S	probably damaging	Het
Ccdc9	T	C	7: 16,012,360 (GRCm39)	D274G	probably damaging	Het
Ciao3	G	C	17: 25,998,548 (GRCm39)	Q217H	probably damaging	Het
Csnk1g2	T	C	10: 80,474,978 (GRCm39)	Y332H	probably damaging	Het
Csrnp1	T	C	9: 119,801,853 (GRCm39)	E402G	probably damaging	Het
Dchs2	T	A	3: 83,189,001 (GRCm39)	I1455N	possibly damaging	Het
Dnah12	A	T	14: 26,492,934 (GRCm39)	I1232F	possibly damaging	Het
Dsn1	C	T	2: 156,843,669 (GRCm39)	V144I	possibly damaging	Het
Efcab3	A	T	11: 104,765,199 (GRCm39)	E2501V	probably benign	Het
Epha6	A	T	16: 60,245,118 (GRCm39)	S360R	probably damaging	Het
Fasl	A	T	1: 161,609,512 (GRCm39)	L158Q	probably damaging	Het
Filip1	A	T	9: 79,727,014 (GRCm39)	V535E	probably benign	Het
Fmo5	A	T	3: 97,546,190 (GRCm39)	K168*	probably null	Het
Gm5157	T	G	7: 20,919,431 (GRCm39)	K37N	probably benign	Het
Grm8	T	A	6: 27,363,728 (GRCm39)	I596F	possibly damaging	Het
Il23a	T	C	10: 128,132,990 (GRCm39)	E123G	probably benign	Het
Itpr2	T	C	6: 146,226,587 (GRCm39)	T1386A	probably benign	Het
Krt79	T	A	15: 101,840,245 (GRCm39)	Q317L	possibly damaging	Het
Lhx4	A	G	1: 155,578,353 (GRCm39)	I263T	probably benign	Het
Med4	T	C	14: 73,747,601 (GRCm39)	L34P	probably damaging	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mief2	A	T	11: 60,621,844 (GRCm39)	H138L	possibly damaging	Het
Nat3	A	T	8: 68,000,162 (GRCm39)	K14*	probably null	Het
Nbeal1	T	A	1: 60,297,818 (GRCm39)	I1216N	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,118 (GRCm39)	E461G	probably benign	Het
Or11h23	C	A	14: 50,948,507 (GRCm39)	T240N	probably damaging	Het
Or5aq7	T	C	2: 86,938,561 (GRCm39)	T57A	probably damaging	Het
Or5p4	C	T	7: 107,680,727 (GRCm39)	T242M	probably damaging	Het
Pdha2	C	A	3: 140,916,550 (GRCm39)	M319I	probably benign	Het
Pik3r2	A	G	8: 71,227,494 (GRCm39)	V43A	possibly damaging	Het
Psd	T	A	19: 46,301,880 (GRCm39)	E902V	probably damaging	Het
Psme3	A	C	11: 101,211,437 (GRCm39)	H198P	probably damaging	Het
Rlbp1	T	C	7: 79,027,003 (GRCm39)	D219G	possibly damaging	Het
Scn1b	C	A	7: 30,824,517 (GRCm39)	W57L	probably damaging	Het
Sfrp2	T	C	3: 83,674,006 (GRCm39)	I53T	probably damaging	Het
Skic2	T	C	17: 35,066,439 (GRCm39)		probably null	Het
Slc18a3	A	G	14: 32,185,282 (GRCm39)	I367T	probably benign	Het
Slc44a2	A	T	9: 21,258,246 (GRCm39)	R499W	probably damaging	Het
St18	A	G	1: 6,865,747 (GRCm39)	D75G	probably benign	Het
Trim67	C	A	8: 125,549,967 (GRCm39)	Y532*	probably null	Het
Ttc16	C	T	2: 32,664,952 (GRCm39)		probably benign	Het
Usp7	A	T	16: 8,517,124 (GRCm39)	S487T	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r70	T	C	7: 85,208,498 (GRCm39)	T660A	possibly damaging	Het
Zer1	A	T	2: 30,000,923 (GRCm39)	V166D	probably benign	Het

Other mutations in Ccdc121rt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ccdc121rt3	APN	5	112,502,994 (GRCm39)	nonsense	probably null
IGL01464:Ccdc121rt3	APN	5	112,503,399 (GRCm39)	missense	possibly damaging	0.93
IGL01615:Ccdc121rt3	APN	5	112,503,696 (GRCm39)	missense	possibly damaging	0.93
R0508:Ccdc121rt3	UTSW	5	112,502,685 (GRCm39)	missense	probably damaging	0.99
R1466:Ccdc121rt3	UTSW	5	112,502,630 (GRCm39)	missense	probably benign	0.00
R1466:Ccdc121rt3	UTSW	5	112,502,630 (GRCm39)	missense	probably benign	0.00
R1473:Ccdc121rt3	UTSW	5	112,502,415 (GRCm39)	missense	probably benign	0.45
R1474:Ccdc121rt3	UTSW	5	112,503,642 (GRCm39)	missense	probably benign
R1584:Ccdc121rt3	UTSW	5	112,502,630 (GRCm39)	missense	probably benign	0.00
R2032:Ccdc121rt3	UTSW	5	112,502,978 (GRCm39)	missense	possibly damaging	0.95
R2422:Ccdc121rt3	UTSW	5	112,502,984 (GRCm39)	missense	probably damaging	1.00
R4795:Ccdc121rt3	UTSW	5	112,503,165 (GRCm39)	missense	possibly damaging	0.65
R4796:Ccdc121rt3	UTSW	5	112,503,165 (GRCm39)	missense	possibly damaging	0.65
R5306:Ccdc121rt3	UTSW	5	112,502,910 (GRCm39)	missense	probably benign	0.41
R5997:Ccdc121rt3	UTSW	5	112,502,874 (GRCm39)	missense	possibly damaging	0.71
R6915:Ccdc121rt3	UTSW	5	112,502,523 (GRCm39)	missense	probably damaging	1.00
R7022:Ccdc121rt3	UTSW	5	112,503,395 (GRCm39)	missense	probably benign
R7702:Ccdc121rt3	UTSW	5	112,503,063 (GRCm39)	missense	probably benign	0.27
R7721:Ccdc121rt3	UTSW	5	112,503,383 (GRCm39)	missense	probably benign
R8037:Ccdc121rt3	UTSW	5	112,502,882 (GRCm39)	missense	probably benign	0.23
R8114:Ccdc121rt3	UTSW	5	112,503,563 (GRCm39)	missense	probably benign
R8380:Ccdc121rt3	UTSW	5	112,503,191 (GRCm39)	missense	probably benign	0.01
R8914:Ccdc121rt3	UTSW	5	112,503,087 (GRCm39)	missense	probably damaging	0.98
R9067:Ccdc121rt3	UTSW	5	112,502,706 (GRCm39)	missense	possibly damaging	0.90
R9140:Ccdc121rt3	UTSW	5	112,502,723 (GRCm39)	missense	probably damaging	1.00
R9690:Ccdc121rt3	UTSW	5	112,503,300 (GRCm39)	missense	probably benign
R9786:Ccdc121rt3	UTSW	5	112,502,939 (GRCm39)	missense	probably benign
Z1177:Ccdc121rt3	UTSW	5	112,502,784 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAATAGCTTGCTGTCTGCTTTC -3'
(R):5'- GTGGCCAGAACTGATTCTCC -3'

Sequencing Primer
(F):5'- CTCACATAAAATGTCCTGCTGCATG -3'
(R):5'- CCAGAACTGATTCTCCTGGAAAGG -3'

Posted On

2022-04-18