Mutagenetix > Incidental Mutation

Incidental Mutation 'R2138:Afp'

235947

Institutional Source

Beutler Lab

Gene Symbol

Afp

Ensembl Gene

ENSMUSG00000054932

Gene Name

alpha fetoprotein

Synonyms

alpha-foetoprotein

MMRRC Submission

040141-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R2138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90638596-90656766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90647506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 250 (E250G)

Ref Sequence

ENSEMBL: ENSMUSP00000041006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042755] [ENSMUST00000200693]

AlphaFold

P02772

Predicted Effect

probably damaging
Transcript: ENSMUST00000042755
AA Change: E250G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: E250G

Domain	Start	End	E-Value	Type
ALBUMIN	20	201	5.33e-70	SMART
ALBUMIN	208	393	8.52e-69	SMART
ALBUMIN	400	591	6.39e-82	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200693

SMART Domains

Protein: ENSMUSP00000144019
Gene: ENSMUSG00000054932

Domain	Start	End	E-Value	Type
ALBUMIN	20	121	1.4e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202955

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females homozygous for targeted null mutations are sterile due to impairment of the hypothalamic/pituitary system and failure of the estrus cycle resulting in anovulation. Homozygous males are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,122 (GRCm39)	V6A	probably benign	Het
Abcc6	A	G	7: 45,630,475 (GRCm39)	F1262L	probably damaging	Het
Acot13	A	T	13: 25,002,188 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,593,439 (GRCm39)	I4183V	probably benign	Het
Aff4	T	G	11: 53,263,339 (GRCm39)	S120A	possibly damaging	Het
Ankrd34b	A	T	13: 92,575,914 (GRCm39)	D382V	probably damaging	Het
Arhgef19	A	T	4: 140,978,111 (GRCm39)	I577F	probably damaging	Het
Arl6	A	G	16: 59,442,830 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,773,268 (GRCm39)	M333K	probably benign	Het
Atp8b3	C	A	10: 80,362,939 (GRCm39)	A635S	possibly damaging	Het
Baiap2	A	G	11: 119,847,928 (GRCm39)	T19A	possibly damaging	Het
Bcar3	A	G	3: 122,306,645 (GRCm39)	D206G	probably damaging	Het
Ccdc162	A	T	10: 41,457,293 (GRCm39)	M85K	probably benign	Het
Clec4a4	A	G	6: 123,000,937 (GRCm39)	N217D	probably damaging	Het
Csmd1	T	C	8: 15,979,088 (GRCm39)	Y2832C	probably damaging	Het
Cubn	A	G	2: 13,449,189 (GRCm39)	I962T	probably damaging	Het
Dennd4a	A	G	9: 64,796,619 (GRCm39)	Y852C	probably damaging	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dusp12	G	A	1: 170,708,166 (GRCm39)	Q114*	probably null	Het
Elfn2	G	T	15: 78,558,238 (GRCm39)	T103K	probably benign	Het
Eme1	A	T	11: 94,539,018 (GRCm39)	V314E	probably damaging	Het
Epb41l3	A	G	17: 69,514,875 (GRCm39)	E4G	probably damaging	Het
Exoc6b	A	T	6: 84,966,464 (GRCm39)	L170Q	probably damaging	Het
Fbln5	C	T	12: 101,728,179 (GRCm39)	M261I	probably benign	Het
Fgf22	T	C	10: 79,592,435 (GRCm39)	V64A	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,259,420 (GRCm39)	S401R	probably damaging	Het
Gen1	A	T	12: 11,291,622 (GRCm39)	S722R	probably damaging	Het
Gm10754	A	T	10: 97,518,132 (GRCm39)		probably benign	Het
Grid2	G	A	6: 64,322,782 (GRCm39)	R594Q	probably damaging	Het
Grm7	C	A	6: 110,623,098 (GRCm39)	N90K	probably damaging	Het
Herc1	G	A	9: 66,377,589 (GRCm39)	V3452M	possibly damaging	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Klra3	A	T	6: 130,310,121 (GRCm39)	V133D	probably benign	Het
Lims2	A	G	18: 32,088,460 (GRCm39)	E220G	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mbl1	T	A	14: 40,875,648 (GRCm39)	I34K	possibly damaging	Het
Mgam	C	T	6: 40,733,384 (GRCm39)	P839S	probably damaging	Het
Mmp9	G	T	2: 164,794,387 (GRCm39)	E460*	probably null	Het
Mov10	T	C	3: 104,711,558 (GRCm39)	H316R	probably benign	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Myo15b	T	C	11: 115,774,633 (GRCm39)	S2082P	probably benign	Het
Myrfl	G	A	10: 116,631,443 (GRCm39)	T706I	probably benign	Het
Nampt	C	A	12: 32,888,421 (GRCm39)	H191N	possibly damaging	Het
Niban1	G	A	1: 151,572,002 (GRCm39)	V316M	probably damaging	Het
Nphp3	A	G	9: 103,903,102 (GRCm39)	E693G	possibly damaging	Het
Obscn	A	T	11: 58,894,491 (GRCm39)	Y1191*	probably null	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or1r1	A	T	11: 73,875,129 (GRCm39)	Y102N	probably damaging	Het
Or7a40	A	G	16: 16,491,069 (GRCm39)	Y259H	probably damaging	Het
Osbpl10	A	G	9: 115,061,202 (GRCm39)	N760S	probably benign	Het
Otof	A	G	5: 30,619,114 (GRCm39)	V10A	probably benign	Het
Pkhd1l1	A	C	15: 44,364,853 (GRCm39)	E664A	probably damaging	Het
Pnp2	T	C	14: 51,201,161 (GRCm39)	S178P	probably damaging	Het
Pvr	G	A	7: 19,650,927 (GRCm39)	T199I	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnaseh2b	T	C	14: 62,598,794 (GRCm39)	V173A	probably benign	Het
Septin12	C	T	16: 4,810,070 (GRCm39)	R155H	probably damaging	Het
Slco6d1	G	T	1: 98,371,385 (GRCm39)	R290L	probably benign	Het
Snx32	A	G	19: 5,546,157 (GRCm39)	V335A	probably damaging	Het
Son	T	C	16: 91,456,260 (GRCm39)	V1669A	possibly damaging	Het
Speer1f	A	T	5: 11,469,052 (GRCm39)	R68*	probably null	Het
Tbata	C	T	10: 61,015,063 (GRCm39)	T116I	probably benign	Het
Tdrd1	T	A	19: 56,831,021 (GRCm39)	S279T	probably benign	Het
Thsd7a	A	T	6: 12,471,072 (GRCm39)	Y515*	probably null	Het
Tmem102	T	G	11: 69,695,940 (GRCm39)	L40F	probably damaging	Het
Tmem169	A	G	1: 72,340,155 (GRCm39)	N195S	probably damaging	Het
Tmem201	A	T	4: 149,802,537 (GRCm39)	S613T	probably damaging	Het
Tnfaip6	A	T	2: 51,942,344 (GRCm39)	I218F	possibly damaging	Het
Tube1	C	A	10: 39,023,347 (GRCm39)	H331Q	probably benign	Het
Wwc1	G	A	11: 35,732,714 (GRCm39)	T998I	possibly damaging	Het
Xpc	A	T	6: 91,475,104 (GRCm39)	Y638*	probably null	Het
Zdhhc4	A	T	5: 143,310,017 (GRCm39)	Y80*	probably null	Het

Other mutations in Afp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03261:Afp	APN	5	90,639,610 (GRCm39)	critical splice donor site	probably null
R0018:Afp	UTSW	5	90,654,600 (GRCm39)	missense	probably damaging	1.00
R0387:Afp	UTSW	5	90,645,150 (GRCm39)	missense	probably damaging	1.00
R0529:Afp	UTSW	5	90,652,254 (GRCm39)	missense	probably damaging	1.00
R1401:Afp	UTSW	5	90,649,486 (GRCm39)	splice site	probably benign
R1471:Afp	UTSW	5	90,651,541 (GRCm39)	missense	possibly damaging	0.49
R1666:Afp	UTSW	5	90,652,927 (GRCm39)	missense	probably damaging	0.99
R1800:Afp	UTSW	5	90,638,655 (GRCm39)	missense	probably benign	0.00
R2248:Afp	UTSW	5	90,649,429 (GRCm39)	missense	probably damaging	0.99
R4324:Afp	UTSW	5	90,655,764 (GRCm39)	missense	probably benign	0.00
R4555:Afp	UTSW	5	90,654,546 (GRCm39)	missense	possibly damaging	0.88
R5035:Afp	UTSW	5	90,655,764 (GRCm39)	missense	probably benign	0.00
R5241:Afp	UTSW	5	90,649,473 (GRCm39)	missense	probably benign	0.37
R5925:Afp	UTSW	5	90,645,147 (GRCm39)	missense	probably damaging	1.00
R6220:Afp	UTSW	5	90,652,269 (GRCm39)	missense	possibly damaging	0.78
R6719:Afp	UTSW	5	90,651,562 (GRCm39)	missense	probably benign	0.01
R8211:Afp	UTSW	5	90,649,345 (GRCm39)	missense	possibly damaging	0.73
R8496:Afp	UTSW	5	90,639,572 (GRCm39)	missense	probably damaging	1.00
R8960:Afp	UTSW	5	90,651,500 (GRCm39)	missense	probably benign	0.12
R9112:Afp	UTSW	5	90,652,289 (GRCm39)	critical splice donor site	probably null
R9326:Afp	UTSW	5	90,652,205 (GRCm39)	missense	probably damaging	0.99
Z1088:Afp	UTSW	5	90,652,874 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GCTGACGAGACCTAAGATGTG -3'
(R):5'- CAAAGCAATCATGACGTAGCTC -3'

Sequencing Primer
(F):5'- CTGACGAGACCTAAGATGTGTTTCC -3'
(R):5'- GACGTAGCTCAAATTTTACTCTTCG -3'

Posted On

2014-10-01