Incidental Mutation 'R0048:Cblif'
| ID |
201297 |
| 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)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
19 |
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 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 |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,137,761 (GRCm39) |
M248V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly 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 |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
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 |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
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 |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
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 |
| Vmn1r67 |
G |
A |
7: 10,180,793 (GRCm39) |
G19E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Wwox |
C |
A |
8: 115,166,570 (GRCm39) |
P20Q |
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAACTGGGAAATGGGCTAGTGA -3'
(R):5'- CTGCTATTTGAAGAGAAGGGCTGAGTG -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CCAGTGGGCTTCATATTGGC -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation