Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Cblif'

436323

Institutional Source

Beutler Lab

Gene Symbol

Cblif

Ensembl Gene

ENSMUSG00000024682

Gene Name

cobalamin binding intrinsic factor

Synonyms

Gif

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11724918-11740811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11725859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 50 (S50P)

Ref Sequence

ENSEMBL: ENSMUSP00000025585 (fasta)

Gene Model

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

AlphaFold

P52787

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025585
AA Change: S50P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025585
Gene: ENSMUSG00000024682
AA Change: S50P

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	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
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'- CCTTCTGCTAAAAGGCCTAAAAGAC -3'
(R):5'- TGAAGTGTCATCAGAGGTAGCTC -3'

Sequencing Primer
(F):5'- AGGCCTAAAAGACACAGAAATTC -3'
(R):5'- TGACACAGAGCTGGGGTC -3'

Posted On

2016-10-24