Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Cblif'

671029

Institutional Source

Beutler Lab

Gene Symbol

Cblif

Ensembl Gene

ENSMUSG00000024682

Gene Name

cobalamin binding intrinsic factor

Synonyms

Gif

MMRRC Submission

068635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11724918-11740811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11727599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 141 (A141E)

Ref Sequence

ENSEMBL: ENSMUSP00000025585 (fasta)

Gene Model

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

AlphaFold

P52787

Predicted Effect

probably damaging
Transcript: ENSMUST00000025585
AA Change: A141E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025585
Gene: ENSMUSG00000024682
AA Change: A141E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,793,697 (GRCm39)	I382T	probably damaging	Het
Adam39	G	T	8: 41,279,613 (GRCm39)	R668L	probably benign	Het
Adam6b	T	C	12: 113,455,310 (GRCm39)	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,836,522 (GRCm39)	E692G	probably damaging	Het
Asxl2	T	C	12: 3,546,536 (GRCm39)	L440P	probably benign	Het
Atosb	G	A	4: 43,033,546 (GRCm39)	P536S	probably damaging	Het
Bmf	A	G	2: 118,377,386 (GRCm39)	F121L	probably damaging	Het
Cdk9	A	T	2: 32,598,269 (GRCm39)	F262L	probably benign	Het
Clock	T	A	5: 76,410,574 (GRCm39)	D99V	probably damaging	Het
Dnah14	A	T	1: 181,642,189 (GRCm39)	T102S		Het
Eps15	T	C	4: 109,162,908 (GRCm39)	V67A	probably benign	Het
Fam171b	T	A	2: 83,643,103 (GRCm39)	L4H	probably damaging	Het
Fcho2	T	A	13: 98,951,769 (GRCm39)		probably benign	Het
Gal3st4	C	T	5: 138,269,251 (GRCm39)	V70M	probably damaging	Het
Garin2	C	T	12: 78,761,924 (GRCm39)	T196M	probably damaging	Het
Got1l1	C	A	8: 27,690,749 (GRCm39)		probably null	Het
Gpr146	A	G	5: 139,378,549 (GRCm39)	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,558,137 (GRCm39)	V346M	probably damaging	Het
Herc1	C	A	9: 66,372,768 (GRCm39)	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,890,226 (GRCm39)	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,835,104 (GRCm39)		probably benign	Het
Ift70a1	C	A	2: 75,811,898 (GRCm39)	E62*	probably null	Het
Lama4	T	G	10: 38,924,048 (GRCm39)	I485M	probably benign	Het
Lrp4	C	T	2: 91,325,300 (GRCm39)	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,463,549 (GRCm39)	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,821,773 (GRCm39)	Q692*	probably null	Het
Mark2	G	T	19: 7,258,580 (GRCm39)	H570N	probably benign	Het
Mlph	T	C	1: 90,870,682 (GRCm39)		probably benign	Het
Mnx1	G	A	5: 29,683,372 (GRCm39)		probably benign	Het
Nkx2-2	A	T	2: 147,019,813 (GRCm39)	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,050,919 (GRCm39)	I1058V	probably benign	Het
Nwd2	T	C	5: 63,963,047 (GRCm39)	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,508,669 (GRCm39)	N509I	possibly damaging	Het
Or1e27-ps1	T	C	11: 73,555,471 (GRCm39)	L12P	probably damaging	Het
Or4c121	T	C	2: 89,024,231 (GRCm39)	Y49C	probably benign	Het
Or4f14b	G	C	2: 111,775,073 (GRCm39)	H243D	probably damaging	Het
Pabpc6	T	C	17: 9,888,332 (GRCm39)	N73S	probably damaging	Het
Parp12	A	G	6: 39,065,984 (GRCm39)	F580L	probably benign	Het
Parvg	C	A	15: 84,213,160 (GRCm39)	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,582,541 (GRCm39)	V549A	probably damaging	Het
Pde8b	T	A	13: 95,179,534 (GRCm39)	H374L	probably benign	Het
Pgap4	T	C	4: 49,587,067 (GRCm39)	T34A	possibly damaging	Het
Phf2	C	T	13: 48,970,981 (GRCm39)		probably benign	Het
Pld4	T	C	12: 112,729,924 (GRCm39)	F69L	probably benign	Het
Qrich2	T	C	11: 116,347,456 (GRCm39)	I1123V	unknown	Het
Rida	C	T	15: 34,495,242 (GRCm39)	V8M	possibly damaging	Het
Rnf19b	T	A	4: 128,952,478 (GRCm39)	C139S	probably damaging	Het
Rp1	T	C	1: 4,095,091 (GRCm39)	I1254M	unknown	Het
Rpl3l	A	G	17: 24,947,447 (GRCm39)	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 34,022,942 (GRCm39)	I147N	possibly damaging	Het
Slc12a4	G	A	8: 106,673,390 (GRCm39)	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,764,119 (GRCm39)	R59*	probably null	Het
Strc	T	A	2: 121,208,286 (GRCm39)	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tll1	T	A	8: 64,538,499 (GRCm39)	T382S	probably damaging	Het
Tmprss6	T	A	15: 78,328,328 (GRCm39)	D556V	probably damaging	Het
Ttc13	A	G	8: 125,401,099 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,767,244 (GRCm39)	K709*	probably null	Het
Vcan	A	T	13: 89,840,230 (GRCm39)	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,659,669 (GRCm39)	I81V	probably benign	Het
Zxdc	A	G	6: 90,346,986 (GRCm39)	T116A	probably benign	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
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
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'- GCCAGTCTTTCTATGACTATGACAG -3'
(R):5'- TCAATGTTTGCATACCGGGC -3'

Sequencing Primer
(F):5'- CTCCAGTGTGCTAAGTGT -3'
(R):5'- ATACCGGGCCACCTGCATG -3'

Posted On

2021-04-30