Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Ctif'

545228

Institutional Source

Beutler Lab

Gene Symbol

Ctif

Ensembl Gene

ENSMUSG00000052928

Gene Name

CBP80/20-dependent translation initiation factor

Synonyms

LOC269037, Gm672

MMRRC Submission

045115-MU

Accession Numbers

Essential gene?

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

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75564295-75830625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75570279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 540 (D540V)

Ref Sequence

ENSEMBL: ENSMUSP00000129974 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165559
AA Change: D540V

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: D540V

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

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,278,198 (GRCm39)	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,092,727 (GRCm39)	I264T	probably benign	Het
Arid3a	G	T	10: 79,786,718 (GRCm39)	M488I	possibly damaging	Het
Auts2	A	G	5: 131,494,961 (GRCm39)	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,158,532 (GRCm39)		probably null	Het
Bpifb5	C	A	2: 154,066,876 (GRCm39)	S43*	probably null	Het
Carhsp1	A	G	16: 8,478,869 (GRCm39)	V128A	probably benign	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Cdk6	C	G	5: 3,523,152 (GRCm39)	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,632,416 (GRCm39)	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,557,277 (GRCm39)	E225G	probably damaging	Het
Copg1	T	A	6: 87,879,322 (GRCm39)	L456Q	probably damaging	Het
Cyfip1	T	C	7: 55,569,241 (GRCm39)	I917T	probably benign	Het
Cyth1	T	C	11: 118,103,477 (GRCm39)	D9G	probably benign	Het
Dnajb1	T	C	8: 84,336,884 (GRCm39)	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,480,575 (GRCm39)	Y139*	probably null	Het
Efcab3	A	G	11: 104,584,248 (GRCm39)	T100A	probably benign	Het
Fam162a	A	T	16: 35,870,302 (GRCm39)	V59E	probably damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmo6	C	G	1: 162,753,877 (GRCm39)	R112T	probably benign	Het
Gm17087	T	A	17: 8,785,304 (GRCm39)	D133V	probably benign	Het
Gm42669	A	G	5: 107,656,142 (GRCm39)	I802V	probably benign	Het
Gp2	T	C	7: 119,050,868 (GRCm39)	N288D	probably damaging	Het
Gstm7	C	T	3: 107,834,278 (GRCm39)	D196N	probably benign	Het
Hsph1	A	T	5: 149,553,865 (GRCm39)	V201D	probably damaging	Het
Il20ra	T	C	10: 19,588,458 (GRCm39)	L26P	unknown	Het
Itpr1	T	A	6: 108,408,459 (GRCm39)		probably null	Het
Kcns3	A	T	12: 11,141,688 (GRCm39)	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,375,475 (GRCm39)	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,153,999 (GRCm39)	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,502 (GRCm39)	I294N	probably damaging	Het
Map1a	A	C	2: 121,130,720 (GRCm39)	N512T	probably damaging	Het
Marchf8	C	G	6: 116,380,504 (GRCm39)	C118W	probably damaging	Het
Marchf8	T	G	6: 116,380,505 (GRCm39)	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,025,741 (GRCm39)	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,525,947 (GRCm39)	Q27L	probably benign	Het
Muc16	T	A	9: 18,569,532 (GRCm39)	T996S	unknown	Het
Mug1	C	T	6: 121,838,084 (GRCm39)	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866 (GRCm39)	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,190 (GRCm39)		probably null	Het
Or2b7	A	G	13: 21,740,108 (GRCm39)	F28S	probably benign	Het
Or2l5	A	T	16: 19,334,206 (GRCm39)	F60Y	probably benign	Het
Or5w17	T	C	2: 87,584,215 (GRCm39)	I41V	probably benign	Het
Or5w1b	A	T	2: 87,476,320 (GRCm39)	L49Q	probably damaging	Het
Or7e177	T	A	9: 20,211,959 (GRCm39)	C154*	probably null	Het
Parp9	T	A	16: 35,780,433 (GRCm39)		probably null	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pbx1	T	A	1: 168,258,949 (GRCm39)	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,622,738 (GRCm39)	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,647 (GRCm39)	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,373,061 (GRCm39)	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,634,904 (GRCm39)	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,114,931 (GRCm39)		probably benign	Het
Pknox2	T	A	9: 36,820,963 (GRCm39)	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,922,429 (GRCm39)	I582T	probably damaging	Het
Prtg	T	C	9: 72,799,267 (GRCm39)	Y766H	possibly damaging	Het
Prxl2a	T	C	14: 40,724,451 (GRCm39)	E71G	probably benign	Het
Rabgap1	A	G	2: 37,450,575 (GRCm39)	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,169,642 (GRCm39)	N60K	probably damaging	Het
Rnf150	C	T	8: 83,769,292 (GRCm39)	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,523,331 (GRCm39)	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,268,401 (GRCm39)	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,572,303 (GRCm39)	G223C	probably null	Het
Sema6a	T	A	18: 47,431,284 (GRCm39)	N138I	probably damaging	Het
Septin5	T	A	16: 18,443,659 (GRCm39)	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,804,234 (GRCm39)	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,511,792 (GRCm39)	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,145,183 (GRCm39)	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,474,709 (GRCm39)	I538V	probably benign	Het
Slco4c1	A	T	1: 96,751,506 (GRCm39)		probably null	Het
Smarcad1	T	C	6: 65,029,654 (GRCm39)	S81P	probably damaging	Het
Smyd1	T	C	6: 71,215,611 (GRCm39)	D116G	probably damaging	Het
Themis	T	C	10: 28,665,703 (GRCm39)	Y589H	probably benign	Het
Trim30d	T	C	7: 104,132,543 (GRCm39)	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,918 (GRCm39)	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,201,289 (GRCm39)	Y405C	probably damaging	Het
Wdfy3	A	G	5: 102,042,775 (GRCm39)		probably null	Het
Wiz	C	A	17: 32,580,840 (GRCm39)	A83S	probably damaging	Het
Zfp1002	A	T	2: 150,097,182 (GRCm39)	C82*	probably null	Het
Zmym6	T	A	4: 127,017,337 (GRCm39)	Y947*	probably null	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
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
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'- GATAGGTCTCTCCCTAGCAATG -3'
(R):5'- TGGAGAACCATGTGTGACGG -3'

Sequencing Primer
(F):5'- CCCTAGCAATGTGTCATGGATGC -3'
(R):5'- AACCATGTGTGACGGCTCAG -3'

Posted On

2019-05-13