Incidental Mutation 'IGL02678:Gif'
ID303255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gif
Ensembl Gene ENSMUSG00000024682
Gene Namegastric intrinsic factor
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02678
Quality Score
Status
Chromosome19
Chromosomal Location11747554-11763447 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11748475 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 43 (M43T)
Ref Sequence ENSEMBL: ENSMUSP00000025585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025585]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,228,917 Y360C probably damaging Het
Aasdh A G 5: 76,888,020 probably benign Het
Adgrb1 A G 15: 74,538,328 E272G probably damaging Het
Alcam G A 16: 52,274,038 P416S probably damaging Het
B3galt1 A G 2: 68,118,910 H323R probably benign Het
Bahcc1 G A 11: 120,272,871 S665N probably damaging Het
Birc6 T C 17: 74,649,903 S3631P probably damaging Het
Capn3 A C 2: 120,502,998 N621T probably damaging Het
Ccdc162 G A 10: 41,561,155 H480Y probably damaging Het
Ccr2 T A 9: 124,106,746 D354E probably benign Het
Cdc42bpb T G 12: 111,326,096 D335A probably damaging Het
Chrd G T 16: 20,734,020 R89L probably damaging Het
Cops2 T C 2: 125,844,911 R91G probably benign Het
Ddi1 T C 9: 6,266,106 T88A probably benign Het
Dnaic1 A C 4: 41,602,917 E140A probably benign Het
Gcn1l1 A G 5: 115,613,755 D2063G probably damaging Het
Gdpd4 A T 7: 97,974,377 probably benign Het
Gm13212 A T 4: 145,622,497 H168L probably damaging Het
Gm2075 C A 12: 88,012,176 P110Q possibly damaging Het
Gm6614 A T 6: 142,008,718 Y10N probably damaging Het
Gng7 C A 10: 80,951,684 L48F probably damaging Het
Htt G T 5: 34,899,902 C2725F probably damaging Het
Inpp4b A G 8: 81,856,744 K159R probably damaging Het
Insr G T 8: 3,173,570 N854K probably benign Het
Ktn1 A T 14: 47,734,153 probably null Het
Lcat A G 8: 105,941,940 probably null Het
Mb21d2 T C 16: 28,828,049 E391G probably benign Het
Mms19 A G 19: 41,954,476 S354P possibly damaging Het
Mx2 G A 16: 97,556,120 probably null Het
Mycl G A 4: 122,999,983 R192Q probably damaging Het
Mzf1 A G 7: 13,052,909 V78A possibly damaging Het
Nipbl G T 15: 8,351,110 P733T possibly damaging Het
Nploc4 A G 11: 120,389,372 I450T probably benign Het
Olfr948 C T 9: 39,318,921 S231N probably benign Het
Omd A T 13: 49,592,281 E389V probably benign Het
Oxgr1 A G 14: 120,022,168 L209P probably damaging Het
Pak1 A C 7: 97,894,002 T291P probably damaging Het
Pcmtd1 T A 1: 7,169,821 I338K probably damaging Het
Phrf1 A G 7: 141,260,282 D364G probably damaging Het
Pomk G A 8: 25,983,107 P273S probably damaging Het
Psg22 A T 7: 18,719,493 I38F probably damaging Het
Rbks G T 5: 31,673,413 T42N probably damaging Het
Rrbp1 A G 2: 143,990,187 V20A probably damaging Het
Six4 T C 12: 73,112,634 Y176C probably damaging Het
Slc11a2 T A 15: 100,412,200 M9L possibly damaging Het
Slc16a11 T C 11: 70,215,416 L112S probably damaging Het
Slc25a28 A T 19: 43,667,147 probably benign Het
Slc30a3 G A 5: 31,088,332 R237* probably null Het
Smc1b G A 15: 85,065,000 R1237* probably null Het
Smtn T C 11: 3,526,353 E585G possibly damaging Het
Spatc1 A T 15: 76,292,372 D441V probably damaging Het
Tenm4 A G 7: 96,896,219 N2481D probably damaging Het
Tnks2 A T 19: 36,845,743 I137F possibly damaging Het
Trip11 T C 12: 101,883,390 K1472E probably damaging Het
Ttn C A 2: 76,878,316 E1846* probably null Het
Vwa8 A G 14: 78,984,200 D532G probably damaging Het
Zfp977 G A 7: 42,582,995 T14I probably damaging Het
Other mutations in Gif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Gif APN 19 11757762 missense probably benign 0.40
IGL02466:Gif APN 19 11752232 missense probably damaging 1.00
IGL02955:Gif APN 19 11747663 missense possibly damaging 0.93
R0048:Gif UTSW 19 11749756 missense possibly damaging 0.95
R0048:Gif UTSW 19 11749756 missense possibly damaging 0.95
R0135:Gif UTSW 19 11757754 missense probably damaging 1.00
R0606:Gif UTSW 19 11752294 missense possibly damaging 0.80
R1758:Gif UTSW 19 11757815 missense probably damaging 1.00
R1885:Gif UTSW 19 11752324 missense probably benign
R2054:Gif UTSW 19 11759006 missense probably benign 0.01
R3087:Gif UTSW 19 11760373 nonsense probably null
R4004:Gif UTSW 19 11759007 missense probably damaging 1.00
R4601:Gif UTSW 19 11752190 missense probably damaging 1.00
R4888:Gif UTSW 19 11752219 missense probably benign 0.16
R5546:Gif UTSW 19 11748495 missense possibly damaging 0.95
R5795:Gif UTSW 19 11760376 missense probably damaging 0.99
R6136:Gif UTSW 19 11750285 missense probably damaging 0.98
R6147:Gif UTSW 19 11747572 start gained probably benign
R7342:Gif UTSW 19 11763223 missense probably benign 0.00
Posted On2015-04-16