Mutagenetix > Incidental Mutation

Incidental Mutation 'R1248:Fuom'

152191

Institutional Source

Beutler Lab

Gene Symbol

Fuom

Ensembl Gene

ENSMUSG00000025466

Gene Name

fucose mutarotase

Synonyms

1810014F10Rik

MMRRC Submission

039315-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139676683-139682354 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 139679631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026539] [ENSMUST00000026540] [ENSMUST00000120034] [ENSMUST00000121115] [ENSMUST00000148716] [ENSMUST00000142105]

AlphaFold

Q8R2K1

Predicted Effect

probably benign
Transcript: ENSMUST00000026539

SMART Domains

Protein: ENSMUSP00000026539
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	148	1.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026540

SMART Domains

Protein: ENSMUSP00000026540
Gene: ENSMUSG00000025467

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PRAP	100	144	1.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120034

SMART Domains

Protein: ENSMUSP00000112429
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	134	5.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121115

SMART Domains

Protein: ENSMUSP00000112970
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	117	9.1e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125421

Predicted Effect

probably benign
Transcript: ENSMUST00000128527

SMART Domains

Protein: ENSMUSP00000118717
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	1	105	4.4e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132582

Predicted Effect

probably benign
Transcript: ENSMUST00000148716

SMART Domains

Protein: ENSMUSP00000120353
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	133	7.8e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133834

Predicted Effect

probably benign
Transcript: ENSMUST00000211677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147713

Predicted Effect

probably benign
Transcript: ENSMUST00000142105

SMART Domains

Protein: ENSMUSP00000115799
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	1	134	3e-36	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (43/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit reduced female sexual receptivity and masculinized sexual behaviors in female mice. Heterozygous mice exhibit intermediate phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,271,054 (GRCm39)	F863Y	probably damaging	Het
Akap12	A	G	10: 4,303,847 (GRCm39)	E219G	probably benign	Het
Akr1c20	G	A	13: 4,564,399 (GRCm39)	T38I	possibly damaging	Het
Ap5z1	C	A	5: 142,460,255 (GRCm39)	S511R	probably benign	Het
Arhgap11a	T	A	2: 113,664,447 (GRCm39)	H612L	possibly damaging	Het
Atp2b2	G	T	6: 113,794,153 (GRCm39)	S118Y	probably damaging	Het
Boc	A	T	16: 44,340,836 (GRCm39)	M38K	probably benign	Het
Ccdc171	A	T	4: 83,599,481 (GRCm39)	E773D	possibly damaging	Het
Clxn	A	G	16: 14,742,001 (GRCm39)	M212V	probably benign	Het
Dmtn	C	T	14: 70,850,098 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,832,887 (GRCm39)		probably benign	Het
Fam83b	T	C	9: 76,410,358 (GRCm39)	N184S	probably benign	Het
Fam98c	A	G	7: 28,852,265 (GRCm39)	M98T	probably damaging	Het
Fbn1	T	C	2: 125,143,529 (GRCm39)	K2867E	probably benign	Het
Fsip2	A	T	2: 82,820,107 (GRCm39)	E5280V	possibly damaging	Het
Gm3476	A	T	14: 6,118,512 (GRCm38)	S204T	probably benign	Het
Grhl3	A	G	4: 135,288,617 (GRCm39)	F23L	probably benign	Het
Il4i1	G	T	7: 44,489,213 (GRCm39)	R334L	probably damaging	Het
Ipo13	A	G	4: 117,758,228 (GRCm39)	S712P	probably damaging	Het
Lama4	G	T	10: 38,932,843 (GRCm39)	S573I	probably damaging	Het
Lrp11	A	G	10: 7,480,058 (GRCm39)	H371R	probably benign	Het
Mkln1	T	A	6: 31,466,303 (GRCm39)	I520N	probably damaging	Het
Nagpa	G	T	16: 5,016,480 (GRCm39)	C236*	probably null	Het
Nktr	A	G	9: 121,556,436 (GRCm39)	N38S	probably damaging	Het
Nlrp10	G	A	7: 108,525,088 (GRCm39)	R131C	probably benign	Het
Nxpe2	T	C	9: 48,231,211 (GRCm39)	D386G	possibly damaging	Het
Prpf39	T	A	12: 65,100,740 (GRCm39)		probably benign	Het
Retreg2	A	G	1: 75,121,755 (GRCm39)		probably benign	Het
S100a4	G	T	3: 90,513,084 (GRCm39)	S60I	possibly damaging	Het
Slc12a3	G	T	8: 95,059,905 (GRCm39)	G184C	probably damaging	Het
Slc25a46	C	T	18: 31,742,807 (GRCm39)	D20N	possibly damaging	Het
Smc3	A	G	19: 53,622,509 (GRCm39)	K695E	probably benign	Het
Speer2	A	T	16: 69,653,955 (GRCm39)		probably null	Het
Taar4	T	G	10: 23,836,936 (GRCm39)	V182G	possibly damaging	Het
Ttll1	C	G	15: 83,386,326 (GRCm39)	S93T	probably benign	Het
Ubl3	A	T	5: 148,443,008 (GRCm39)		probably null	Het
Vmn2r16	A	G	5: 109,508,643 (GRCm39)	N457S	probably benign	Het
Vmn2r72	T	C	7: 85,398,396 (GRCm39)	E528G	probably benign	Het
Zfp52	A	C	17: 21,780,311 (GRCm39)	E53A	probably damaging	Het

Other mutations in Fuom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1938:Fuom	UTSW	7	139,679,521 (GRCm39)	missense	probably benign	0.01
R2924:Fuom	UTSW	7	139,679,862 (GRCm39)	missense	probably benign
R2925:Fuom	UTSW	7	139,679,862 (GRCm39)	missense	probably benign
R4722:Fuom	UTSW	7	139,679,480 (GRCm39)	unclassified	probably benign
R5542:Fuom	UTSW	7	139,680,025 (GRCm39)	makesense	probably null
R5958:Fuom	UTSW	7	139,679,811 (GRCm39)	missense	probably damaging	1.00
R7392:Fuom	UTSW	7	139,681,073 (GRCm39)	missense	probably damaging	1.00
R7734:Fuom	UTSW	7	139,679,455 (GRCm39)	missense	unknown
R7892:Fuom	UTSW	7	139,679,492 (GRCm39)	missense	unknown
R8026:Fuom	UTSW	7	139,680,067 (GRCm39)	missense
R9190:Fuom	UTSW	7	139,681,252 (GRCm39)	missense	probably benign	0.30
R9610:Fuom	UTSW	7	139,679,828 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCAGCAGAGTCTCTCAAGATCTGCC -3'
(R):5'- AGCCTAGAAGACCAGGGTTCCATTG -3'

Sequencing Primer
(F):5'- AAGATCTGCCATCTTCTTGAGC -3'
(R):5'- TCTCCTGATGAGGGACTCAAATC -3'

Posted On

2014-01-29