Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Cblif'

303255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cblif

Ensembl Gene

ENSMUSG00000024682

Gene Name

cobalamin binding intrinsic factor

Synonyms

Gif

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

11724918-11740811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11725839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 43 (M43T)

Ref Sequence

ENSEMBL: ENSMUSP00000025585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025585]

AlphaFold

P52787

Predicted Effect

probably damaging
Transcript: ENSMUST00000025585
AA Change: M43T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025585
Gene: ENSMUSG00000024682
AA Change: M43T

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	8	308	2.6e-110	PFAM
Pfam:DUF4430	340	416	7.7e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit vitamin B12-sensitive susceptibility to bacterial infection and reduced body weight and altered blood chemistry that can be compensated by maternal effect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Nploc4	A	G	11: 120,280,198 (GRCm39)	I450T	probably benign	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Or8g30	C	T	9: 39,230,217 (GRCm39)	S231N	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pak1	A	C	7: 97,543,209 (GRCm39)	T291P	probably damaging	Het
Pcmtd1	T	A	1: 7,240,045 (GRCm39)	I338K	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc16a11	T	C	11: 70,106,242 (GRCm39)	L112S	probably damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	probably damaging	Het

Other mutations in Cblif

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Cblif	APN	19	11,735,126 (GRCm39)	missense	probably benign	0.40
IGL02466:Cblif	APN	19	11,729,596 (GRCm39)	missense	probably damaging	1.00
IGL02955:Cblif	APN	19	11,725,027 (GRCm39)	missense	possibly damaging	0.93
R0048:Cblif	UTSW	19	11,727,120 (GRCm39)	missense	possibly damaging	0.95
R0048:Cblif	UTSW	19	11,727,120 (GRCm39)	missense	possibly damaging	0.95
R0135:Cblif	UTSW	19	11,735,118 (GRCm39)	missense	probably damaging	1.00
R0606:Cblif	UTSW	19	11,729,658 (GRCm39)	missense	possibly damaging	0.80
R1758:Cblif	UTSW	19	11,735,179 (GRCm39)	missense	probably damaging	1.00
R1885:Cblif	UTSW	19	11,729,688 (GRCm39)	missense	probably benign
R2054:Cblif	UTSW	19	11,736,370 (GRCm39)	missense	probably benign	0.01
R3087:Cblif	UTSW	19	11,737,737 (GRCm39)	nonsense	probably null
R4004:Cblif	UTSW	19	11,736,371 (GRCm39)	missense	probably damaging	1.00
R4601:Cblif	UTSW	19	11,729,554 (GRCm39)	missense	probably damaging	1.00
R4888:Cblif	UTSW	19	11,729,583 (GRCm39)	missense	probably benign	0.16
R5546:Cblif	UTSW	19	11,725,859 (GRCm39)	missense	possibly damaging	0.95
R5795:Cblif	UTSW	19	11,737,740 (GRCm39)	missense	probably damaging	0.99
R6136:Cblif	UTSW	19	11,727,649 (GRCm39)	missense	probably damaging	0.98
R6147:Cblif	UTSW	19	11,724,936 (GRCm39)	start gained	probably benign
R7342:Cblif	UTSW	19	11,740,587 (GRCm39)	missense	probably benign	0.00
R7814:Cblif	UTSW	19	11,727,551 (GRCm39)	missense	probably benign	0.14
R8382:Cblif	UTSW	19	11,727,090 (GRCm39)	missense	probably benign	0.15
R8792:Cblif	UTSW	19	11,727,599 (GRCm39)	missense	probably damaging	1.00
R9227:Cblif	UTSW	19	11,737,748 (GRCm39)	nonsense	probably null
R9230:Cblif	UTSW	19	11,737,748 (GRCm39)	nonsense	probably null
R9428:Cblif	UTSW	19	11,735,102 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16