Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Ctif'

574303

Institutional Source

Beutler Lab

Gene Symbol

Ctif

Ensembl Gene

ENSMUSG00000052928

Gene Name

CBP80/20-dependent translation initiation factor

Synonyms

LOC269037, Gm672

MMRRC Submission

045484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75564295-75830625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75744807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 99 (I99T)

Ref Sequence

ENSEMBL: ENSMUSP00000129974 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165559
AA Change: I99T

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: I99T

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: 99.3%

Validation Efficiency

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,943,487 (GRCm39)	P12Q	probably damaging	Het
Acsf3	A	G	8: 123,507,163 (GRCm39)	Y152C	probably damaging	Het
Adam22	T	A	5: 8,145,049 (GRCm39)	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,227,825 (GRCm39)	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,666,845 (GRCm39)	D464G	possibly damaging	Het
Alpk3	T	A	7: 80,726,660 (GRCm39)	I115K	probably benign	Het
Amdhd2	A	G	17: 24,380,657 (GRCm39)	S96P		Het
Ankib1	T	G	5: 3,819,586 (GRCm39)	D111A	probably benign	Het
Arhgef2	A	G	3: 88,540,873 (GRCm39)	D216G	probably damaging	Het
Astn1	A	T	1: 158,380,425 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,913,668 (GRCm39)	Y107*	probably null	Het
Atrn	T	A	2: 130,789,520 (GRCm39)	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427 (GRCm38)	H375L	probably damaging	Het
Btaf1	A	T	19: 36,980,915 (GRCm39)	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,497,671 (GRCm39)	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 95,629,981 (GRCm39)	K520R	probably damaging	Het
Cd2ap	T	C	17: 43,116,054 (GRCm39)	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 48,164,408 (GRCm39)	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,391,575 (GRCm39)	Y735*	probably null	Het
Cep350	T	A	1: 155,803,961 (GRCm39)	I1041L	probably benign	Het
Ckap4	A	G	10: 84,363,863 (GRCm39)	V400A	probably damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Coq10b	A	C	1: 55,100,500 (GRCm39)	K61N	probably benign	Het
Csmd2	G	A	4: 128,215,889 (GRCm39)	S548N		Het
Csmd2	A	C	4: 128,215,888 (GRCm39)	S548R		Het
Ctns	T	G	11: 73,083,903 (GRCm39)	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,712,674 (GRCm39)	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,729,318 (GRCm39)	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,938,968 (GRCm39)	K401R	probably damaging	Het
Dstn	T	A	2: 143,780,368 (GRCm39)	C23S	probably benign	Het
Fam72a	A	T	1: 131,466,613 (GRCm39)	E132D	probably damaging	Het
Fam72a	G	T	1: 131,466,614 (GRCm39)	E133*	probably null	Het
Gbp8	T	A	5: 105,179,161 (GRCm39)	I113F	probably damaging	Het
Gm3095	A	T	14: 15,170,332 (GRCm39)	R60S	possibly damaging	Het
Gpa33	A	T	1: 165,980,263 (GRCm39)	M109L	probably damaging	Het
Grik2	A	G	10: 49,411,493 (GRCm39)	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,194,725 (GRCm39)	F897L	probably damaging	Het
Hinfp	A	G	9: 44,209,314 (GRCm39)	L295P	probably damaging	Het
Ift122	T	C	6: 115,871,283 (GRCm39)	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,665,853 (GRCm39)	T82A	probably benign	Het
Il18rap	T	A	1: 40,564,111 (GRCm39)	S76R	probably benign	Het
Itga6	A	T	2: 71,683,897 (GRCm39)	N1045I	probably benign	Het
Kctd21	A	T	7: 96,996,970 (GRCm39)	I148F	possibly damaging	Het
Kif28	T	A	1: 179,567,644 (GRCm39)	H42L	probably benign	Het
Kmt2c	A	C	5: 25,600,418 (GRCm39)	C326W	probably damaging	Het
Knl1	T	A	2: 118,925,707 (GRCm39)	L1912*	probably null	Het
Lrfn1	A	T	7: 28,158,947 (GRCm39)	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,057,185 (GRCm39)	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,147,566 (GRCm39)	N592I	probably damaging	Het
Mbl2	A	G	19: 30,216,802 (GRCm39)	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,455,042 (GRCm39)	M1I	probably null	Het
Mgat4a	T	A	1: 37,493,865 (GRCm39)	H327L	probably damaging	Het
Miox	A	G	15: 89,219,206 (GRCm39)	D16G	probably benign	Het
Mvk	C	A	5: 114,594,039 (GRCm39)	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699 (GRCm39)	L726P	probably damaging	Het
Nos1	T	C	5: 118,087,880 (GRCm39)	I1381T	probably benign	Het
Nup98	A	T	7: 101,784,144 (GRCm39)	S1063T	probably benign	Het
Obscn	T	G	11: 58,886,275 (GRCm39)	M7862L	unknown	Het
Obsl1	T	C	1: 75,464,348 (GRCm39)	T1653A	probably benign	Het
Odr4	A	G	1: 150,262,107 (GRCm39)		probably null	Het
Or4c105	G	T	2: 88,647,687 (GRCm39)	M57I	probably damaging	Het
Or8g53	T	A	9: 39,683,260 (GRCm39)	T279S	probably benign	Het
Or8u9	A	G	2: 86,001,546 (GRCm39)	I205T	probably benign	Het
Or9q2	C	T	19: 13,772,358 (GRCm39)	V206I	probably damaging	Het
Pcdhb20	A	G	18: 37,638,005 (GRCm39)	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,434,657 (GRCm39)	I208L	probably benign	Het
Phlpp1	G	T	1: 106,317,420 (GRCm39)	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,025,053 (GRCm39)	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,052,438 (GRCm39)	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419 (GRCm38)	C101R	probably damaging	Het
Rcor3	A	C	1: 191,812,283 (GRCm39)	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,847,372 (GRCm39)	Q653R	probably benign	Het
Rpap2	T	A	5: 107,768,324 (GRCm39)	Y387*	probably null	Het
Rttn	C	T	18: 89,004,035 (GRCm39)	T343M	possibly damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Six5	T	C	7: 18,828,968 (GRCm39)	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,824,852 (GRCm39)	M419K	probably benign	Het
Slc22a21	T	C	11: 53,851,226 (GRCm39)	M179V	probably benign	Het
Slc35a4	A	G	18: 36,813,570 (GRCm39)	D6G	unknown	Het
Spdye4c	A	T	2: 128,434,261 (GRCm39)	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699 (GRCm39)	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,004,893 (GRCm39)	N85S	probably benign	Het
Teddm2	G	C	1: 153,726,344 (GRCm39)	L124V	probably benign	Het
Teddm2	A	T	1: 153,726,343 (GRCm39)	L124Q	probably damaging	Het
Tgfbr1	T	A	4: 47,405,623 (GRCm39)	W409R	probably damaging	Het
Tkt	A	G	14: 30,280,755 (GRCm39)	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,768,501 (GRCm39)	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,641,126 (GRCm39)	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,846,803 (GRCm39)	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,487,883 (GRCm39)	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,403,176 (GRCm39)	T523I	probably benign	Het
Vwa3b	C	T	1: 37,153,678 (GRCm39)	Q507*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfp281	T	G	1: 136,553,190 (GRCm39)	L56R	probably damaging	Het
Zfp407	G	A	18: 84,579,661 (GRCm39)	T484I	probably benign	Het
Zfp451	T	C	1: 33,852,843 (GRCm39)	T24A	probably benign	Het
Zfp607b	T	A	7: 27,392,919 (GRCm39)	F16I	probably damaging	Het
Zfp638	T	A	6: 83,905,670 (GRCm39)	V41E	possibly 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
R7355:Ctif	UTSW	18	75,743,756 (GRCm39)	missense	probably damaging	0.98
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'- TCCCACTATAGCCATGTGCC -3'
(R):5'- TAGCCAGCCTTAGGTGTCAG -3'

Sequencing Primer
(F):5'- ACTATAGCCATGTGCCCCTTC -3'
(R):5'- AGCCTTAGGTGTCAGCGAGG -3'

Posted On

2019-09-13