Mutagenetix > Incidental Mutation

Incidental Mutation 'R7355:Ctif'

570917

Institutional Source

Beutler Lab

Gene Symbol

Ctif

Ensembl Gene

ENSMUSG00000052928

Gene Name

CBP80/20-dependent translation initiation factor

Synonyms

LOC269037, Gm672

MMRRC Submission

045441-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75564295-75830625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75743756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 139 (H139Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165559]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000165559
AA Change: H139Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: H139Y

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	188	204	N/A	INTRINSIC
low complexity region	347	360	N/A	INTRINSIC
MIF4G	401	602	5.46e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,486,621 (GRCm39)	R1469W	probably benign	Het
Acad10	G	T	5: 121,768,780 (GRCm39)	Y728*	probably null	Het
Adamts17	T	C	7: 66,725,052 (GRCm39)	V160A		Het
Astn1	A	T	1: 158,491,846 (GRCm39)		probably null	Het
Atp8a2	T	C	14: 60,282,453 (GRCm39)	K104E	possibly damaging	Het
Axl	T	C	7: 25,473,531 (GRCm39)	Y365C	probably benign	Het
Btbd16	A	T	7: 130,423,173 (GRCm39)	Y409F	probably benign	Het
Caln1	A	T	5: 130,443,732 (GRCm39)	T22S	probably benign	Het
Camk1	C	A	6: 113,315,307 (GRCm39)	G164C	probably damaging	Het
Cd96	T	C	16: 45,861,655 (GRCm39)	T512A	possibly damaging	Het
Ceacam5	A	G	7: 17,481,312 (GRCm39)	D353G	probably damaging	Het
Cep162	C	A	9: 87,136,008 (GRCm39)	E12*	probably null	Het
Cfh	A	T	1: 140,064,553 (GRCm39)	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196 (GRCm39)	H231R	unknown	Het
Cntnap3	T	C	13: 64,919,776 (GRCm39)	T694A	probably benign	Het
Colq	C	A	14: 31,267,066 (GRCm39)	G158V	probably damaging	Het
D630003M21Rik	A	T	2: 158,042,144 (GRCm39)	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,535,567 (GRCm39)	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,890,180 (GRCm39)	D529G	probably benign	Het
Fat2	T	A	11: 55,147,377 (GRCm39)	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860 (GRCm39)	S73P	probably damaging	Het
Gm19410	C	A	8: 36,274,226 (GRCm39)	Q1460K	probably benign	Het
Golga5	A	T	12: 102,438,494 (GRCm39)	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,770,827 (GRCm39)	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,245,491 (GRCm39)	A583G	probably benign	Het
Hectd1	A	C	12: 51,838,081 (GRCm39)	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,061 (GRCm39)	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,056,375 (GRCm39)	A145T	probably benign	Het
Junb	C	T	8: 85,705,013 (GRCm39)	A16T	probably benign	Het
Kcnh4	C	T	11: 100,643,269 (GRCm39)	V333I	possibly damaging	Het
Ly6c1	T	C	15: 74,919,256 (GRCm39)	T45A	possibly damaging	Het
Mon2	T	A	10: 122,845,421 (GRCm39)	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 125,986,783 (GRCm39)		probably null	Het
Olfml3	C	A	3: 103,643,395 (GRCm39)	G329W	probably damaging	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or10al2	A	G	17: 37,983,301 (GRCm39)	Y129C	probably benign	Het
Or6d15	T	A	6: 116,559,916 (GRCm39)		probably benign	Het
Or9g3	C	T	2: 85,584,023 (GRCm39)	P106L	probably benign	Het
Pcsk7	A	G	9: 45,820,672 (GRCm39)	M35V	probably benign	Het
Phf14	A	G	6: 12,081,006 (GRCm39)	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,011,982 (GRCm39)	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,570,841 (GRCm39)	K766*	probably null	Het
Pprc1	T	C	19: 46,053,785 (GRCm39)	V1105A	unknown	Het
Prdm9	T	G	17: 15,765,497 (GRCm39)	N428H	probably benign	Het
Prkcg	C	T	7: 3,372,025 (GRCm39)	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,441,953 (GRCm39)	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,822,571 (GRCm39)	F217L	probably benign	Het
Pum2	T	A	12: 8,763,906 (GRCm39)	Y283*	probably null	Het
Rest	A	G	5: 77,415,875 (GRCm39)	M30V	probably benign	Het
Rfxank	C	T	8: 70,587,957 (GRCm39)	R150H	probably damaging	Het
Ros1	T	A	10: 52,042,175 (GRCm39)	Q250L	probably damaging	Het
Sgk2	A	G	2: 162,854,987 (GRCm39)	D366G	probably benign	Het
Shoc1	T	C	4: 59,076,155 (GRCm39)	D596G	probably benign	Het
Siglec1	A	T	2: 130,922,371 (GRCm39)	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,940,012 (GRCm39)		probably null	Het
Slc10a5	A	T	3: 10,399,375 (GRCm39)	Y428*	probably null	Het
Slc25a54	T	C	3: 109,010,085 (GRCm39)	W195R	probably damaging	Het
Slf1	A	G	13: 77,239,422 (GRCm39)	I414T	probably damaging	Het
Snx4	C	T	16: 33,087,236 (GRCm39)	P127L	probably damaging	Het
Spdl1	A	T	11: 34,714,191 (GRCm39)	L166H	not run	Het
Tapt1	C	T	5: 44,334,459 (GRCm39)	V511I	probably benign	Het
Tbata	A	G	10: 61,010,099 (GRCm39)		probably benign	Het
Tbx4	T	A	11: 85,802,835 (GRCm39)	V264E	probably damaging	Het
Tecta	A	T	9: 42,278,438 (GRCm39)	Y1023*	probably null	Het
Thop1	A	G	10: 80,911,465 (GRCm39)	D117G	probably damaging	Het
Trip12	A	G	1: 84,792,604 (GRCm39)	L13P	probably damaging	Het
Tut7	T	C	13: 59,969,616 (GRCm39)	N93S	probably benign	Het
Unc13b	T	A	4: 43,237,754 (GRCm39)	V637E	probably damaging	Het
Vinac1	G	T	2: 128,879,149 (GRCm39)	Q926K	unknown	Het
Yipf3	T	A	17: 46,561,566 (GRCm39)	M168K	probably damaging	Het
Zfp119a	A	T	17: 56,173,287 (GRCm39)	C185*	probably null	Het
Zfyve21	A	T	12: 111,791,485 (GRCm39)	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,286,828 (GRCm39)	D2253E	probably damaging	Het

Other mutations in Ctif

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Ctif	APN	18	75,570,247 (GRCm39)	missense	possibly damaging	0.95
IGL01481:Ctif	APN	18	75,744,855 (GRCm39)	splice site	probably benign
IGL02299:Ctif	APN	18	75,770,316 (GRCm39)	missense	probably damaging	1.00
IGL02319:Ctif	APN	18	75,654,944 (GRCm39)	splice site	probably benign
IGL03130:Ctif	APN	18	75,654,689 (GRCm39)	missense	probably benign
R0304:Ctif	UTSW	18	75,654,889 (GRCm39)	missense	probably benign	0.09
R0730:Ctif	UTSW	18	75,698,083 (GRCm39)	missense	probably damaging	0.99
R0835:Ctif	UTSW	18	75,568,407 (GRCm39)	missense	probably damaging	1.00
R1226:Ctif	UTSW	18	75,654,650 (GRCm39)	small deletion	probably benign
R1302:Ctif	UTSW	18	75,654,749 (GRCm39)	missense	probably benign	0.22
R1549:Ctif	UTSW	18	75,698,096 (GRCm39)	missense	probably damaging	1.00
R1674:Ctif	UTSW	18	75,770,251 (GRCm39)	missense	probably benign	0.00
R1697:Ctif	UTSW	18	75,757,376 (GRCm39)	splice site	probably benign
R1848:Ctif	UTSW	18	75,653,012 (GRCm39)	missense	probably damaging	0.96
R2102:Ctif	UTSW	18	75,654,452 (GRCm39)	missense	probably benign
R3499:Ctif	UTSW	18	75,744,828 (GRCm39)	missense	possibly damaging	0.94
R3878:Ctif	UTSW	18	75,653,048 (GRCm39)	missense	probably damaging	0.96
R4157:Ctif	UTSW	18	75,568,341 (GRCm39)	missense	probably benign	0.42
R4168:Ctif	UTSW	18	75,770,286 (GRCm39)	missense	probably damaging	1.00
R4225:Ctif	UTSW	18	75,568,308 (GRCm39)	missense	probably benign	0.01
R4560:Ctif	UTSW	18	75,652,952 (GRCm39)	missense	probably damaging	1.00
R4822:Ctif	UTSW	18	75,654,632 (GRCm39)	missense	probably benign	0.01
R5176:Ctif	UTSW	18	75,770,290 (GRCm39)	missense	probably damaging	1.00
R5824:Ctif	UTSW	18	75,743,749 (GRCm39)	missense	possibly damaging	0.55
R6824:Ctif	UTSW	18	75,654,782 (GRCm39)	missense	probably damaging	1.00
R6934:Ctif	UTSW	18	75,568,431 (GRCm39)	missense	probably benign	0.07
R7014:Ctif	UTSW	18	75,570,279 (GRCm39)	missense	possibly damaging	0.82
R7115:Ctif	UTSW	18	75,604,874 (GRCm39)	critical splice donor site	probably benign
R7169:Ctif	UTSW	18	75,605,087 (GRCm39)	missense	probably damaging	0.99
R7187:Ctif	UTSW	18	75,770,290 (GRCm39)	missense	probably damaging	1.00
R7402:Ctif	UTSW	18	75,744,807 (GRCm39)	missense	probably benign	0.18
R7451:Ctif	UTSW	18	75,652,874 (GRCm39)	missense	possibly damaging	0.82
R7648:Ctif	UTSW	18	75,770,213 (GRCm39)	missense	probably benign	0.04
R7671:Ctif	UTSW	18	75,605,087 (GRCm39)	missense	probably damaging	0.99
R7746:Ctif	UTSW	18	75,604,874 (GRCm39)	critical splice donor site	probably benign
R7765:Ctif	UTSW	18	75,738,715 (GRCm39)	missense	probably damaging	1.00
R8151:Ctif	UTSW	18	75,653,176 (GRCm39)	missense	probably benign
R8358:Ctif	UTSW	18	75,698,115 (GRCm39)	missense	possibly damaging	0.68
R8782:Ctif	UTSW	18	75,654,868 (GRCm39)	missense	probably benign	0.35
R8829:Ctif	UTSW	18	75,604,874 (GRCm39)	critical splice donor site	probably benign
R8963:Ctif	UTSW	18	75,604,874 (GRCm39)	critical splice donor site	probably benign
R9032:Ctif	UTSW	18	75,604,874 (GRCm39)	critical splice donor site	probably benign
R9069:Ctif	UTSW	18	75,654,458 (GRCm39)	missense	probably damaging	0.99
R9631:Ctif	UTSW	18	75,605,025 (GRCm39)	missense	probably benign	0.03
R9645:Ctif	UTSW	18	75,757,352 (GRCm39)	missense	probably benign	0.20
X0027:Ctif	UTSW	18	75,770,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTACACTTGCAGTCCTGG -3'
(R):5'- AGGTGAAGCCCTGATATCTTG -3'

Sequencing Primer
(F):5'- ACTTGCAGTCCTGGGCTGAG -3'
(R):5'- GATATCTTGAGTTCCACCCCAAGTG -3'

Posted On

2019-09-13