Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Cblif'

18506

Institutional Source

Beutler Lab

Gene Symbol

Cblif

Ensembl Gene

ENSMUSG00000024682

Gene Name

cobalamin binding intrinsic factor

Synonyms

Gif

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11724918-11740811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11727120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 110 (V110M)

Ref Sequence

ENSEMBL: ENSMUSP00000025585 (fasta)

Gene Model

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

AlphaFold

P52787

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025585
AA Change: V110M

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025585
Gene: ENSMUSG00000024682
AA Change: V110M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,140,563 (GRCm39)	I299T	probably benign	Het
Ankrd12	A	G	17: 66,291,798 (GRCm39)	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,537,198 (GRCm39)	S52P	probably benign	Het
Aox1	A	G	1: 58,112,371 (GRCm39)	E715G	probably damaging	Het
Arid1b	T	C	17: 5,364,309 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Btaf1	G	T	19: 36,980,924 (GRCm39)	A1582S	probably benign	Het
Ccdc184	G	A	15: 98,066,341 (GRCm39)	A49T	probably damaging	Het
Cd109	A	C	9: 78,587,303 (GRCm39)	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,432,244 (GRCm39)	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,601 (GRCm39)	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262 (GRCm39)	Y562*	probably null	Het
Eno4	T	C	19: 58,952,970 (GRCm39)	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,462,275 (GRCm39)		noncoding transcript	Het
Eya2	T	A	2: 165,557,931 (GRCm39)	Y176N	probably damaging	Het
Fat2	G	T	11: 55,200,865 (GRCm39)	H736Q	probably benign	Het
Fgfr2	A	T	7: 129,782,218 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,662,150 (GRCm39)		probably benign	Het
H60b	T	A	10: 22,163,130 (GRCm39)	M235K	probably benign	Het
Hal	T	A	10: 93,334,853 (GRCm39)	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,318,249 (GRCm39)	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,451,417 (GRCm39)	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,023,256 (GRCm39)	T516S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Jmjd4	C	A	11: 59,344,778 (GRCm39)	H244N	probably benign	Het
Klkb1	G	A	8: 45,742,233 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,496,474 (GRCm39)	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,295,971 (GRCm39)	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,021,369 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,192,727 (GRCm39)	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,198,648 (GRCm39)	V380I	possibly damaging	Het
Mroh9	G	A	1: 162,890,056 (GRCm39)	T227M	probably damaging	Het
Mtor	C	T	4: 148,623,338 (GRCm39)	Q2063*	probably null	Het
Ncstn	A	G	1: 171,897,528 (GRCm39)		probably benign	Het
Nek9	T	C	12: 85,348,673 (GRCm39)	T954A	probably benign	Het
Nlrc5	A	T	8: 95,201,284 (GRCm39)	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,661,304 (GRCm39)	S321P	probably benign	Het
Or13c3	C	A	4: 52,856,196 (GRCm39)	A106S	probably damaging	Het
Pkn2	T	C	3: 142,516,588 (GRCm39)	I513V	probably damaging	Het
Pls1	T	C	9: 95,669,116 (GRCm39)	E35G	probably damaging	Het
Polr3a	A	G	14: 24,519,323 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,540,728 (GRCm39)	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,454,939 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,539,764 (GRCm39)	K423E	probably benign	Het
Rbm27	A	G	18: 42,431,529 (GRCm39)	D112G	probably benign	Het
Rbm46	A	T	3: 82,771,537 (GRCm39)	S359R	probably damaging	Het
Rhobtb3	A	T	13: 76,050,364 (GRCm39)	*100R	probably null	Het
Ryr2	T	C	13: 11,610,670 (GRCm39)	E4052G	probably damaging	Het
Sart3	G	T	5: 113,893,458 (GRCm39)	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,416,616 (GRCm39)	F629S	probably damaging	Het
Siglec1	T	C	2: 130,915,317 (GRCm39)	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 58,048,594 (GRCm39)		probably benign	Het
Slc38a10	G	T	11: 120,001,138 (GRCm39)	P561T	probably benign	Het
Slc45a4	A	G	15: 73,477,285 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,558,146 (GRCm39)		probably benign	Het
Son	T	A	16: 91,455,865 (GRCm39)	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,716,340 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,174,269 (GRCm39)	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,393,779 (GRCm39)		probably benign	Het
Tigd2	C	A	6: 59,188,369 (GRCm39)	T412K	possibly damaging	Het
Umodl1	A	T	17: 31,187,451 (GRCm39)	N172Y	probably damaging	Het
Urah	C	T	7: 140,416,665 (GRCm39)	T46I	probably damaging	Het
Usp8	C	T	2: 126,579,809 (GRCm39)	P353L	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,653,504 (GRCm39)	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,365,900 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,569,729 (GRCm39)	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,369,572 (GRCm39)	K650E	probably damaging	Het
Zfp532	A	G	18: 65,777,404 (GRCm39)	Y887C	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
IGL02678:Cblif	APN	19	11,725,839 (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
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

2013-03-25