Mutagenetix > Incidental Mutation

Incidental Mutation 'R2924:Fuom'

255664

Institutional Source

Beutler Lab

Gene Symbol

Fuom

Ensembl Gene

ENSMUSG00000025466

Gene Name

fucose mutarotase

Synonyms

1810014F10Rik

MMRRC Submission

040509-MU

Accession Numbers

Essential gene?

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

Stock #

R2924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139676683-139682354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139679862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 110 (T110A)

Ref Sequence

ENSEMBL: ENSMUSP00000120353 (fasta)

Gene Model

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

AlphaFold

Q8R2K1

Predicted Effect

probably benign
Transcript: ENSMUST00000026539
AA Change: T110A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026539
Gene: ENSMUSG00000025466
AA Change: T110A

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
AA Change: T110A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112429
Gene: ENSMUSG00000025466
AA Change: T110A

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: ENSMUST00000142105
AA Change: T105A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115799
Gene: ENSMUSG00000025466
AA Change: T105A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148716
AA Change: T110A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120353
Gene: ENSMUSG00000025466
AA Change: T110A

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: ENSMUST00000147713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143197

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,117,069 (GRCm39)	S542P	probably benign	Het
Cass4	A	G	2: 172,268,592 (GRCm39)	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,463,373 (GRCm39)	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,571,941 (GRCm39)	C12Y	probably damaging	Het
Dock6	A	T	9: 21,720,926 (GRCm39)	I1693N	probably damaging	Het
Gli2	C	T	1: 118,764,089 (GRCm39)	R1354H	probably benign	Het
Gm5478	A	T	15: 101,552,229 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Il2rb	T	C	15: 78,376,049 (GRCm39)	M1V	probably null	Het
Ints6l	A	G	X: 55,550,196 (GRCm39)	E483G	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Man2b2	A	G	5: 36,981,446 (GRCm39)	F224L	probably benign	Het
Mrgpra1	G	A	7: 46,984,618 (GRCm39)		probably null	Het
Mtbp	G	A	15: 55,483,210 (GRCm39)	R429Q	probably benign	Het
Ncapg2	C	A	12: 116,402,349 (GRCm39)	T727K	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup214	A	G	2: 31,888,015 (GRCm39)	K15E	probably damaging	Het
Or1e34	A	G	11: 73,778,337 (GRCm39)	I287T	probably damaging	Het
Oxr1	T	C	15: 41,689,353 (GRCm39)	Y526H	probably benign	Het
Plec	A	G	15: 76,062,452 (GRCm39)	F2563S	probably damaging	Het
Prex2	A	G	1: 11,168,711 (GRCm39)	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,420,401 (GRCm39)		probably null	Het
Slc24a2	A	G	4: 86,929,961 (GRCm39)	S512P	probably benign	Het
Srd5a1	A	G	13: 69,734,834 (GRCm39)	S191P	probably damaging	Het
Syt3	T	A	7: 44,045,222 (GRCm39)	V518E	probably damaging	Het
Tmem132e	T	C	11: 82,335,149 (GRCm39)	S652P	probably damaging	Het
Uba6	A	T	5: 86,307,130 (GRCm39)	V102D	probably damaging	Het
Unc13a	A	G	8: 72,097,596 (GRCm39)	V1158A	possibly damaging	Het
Upk3a	A	G	15: 84,902,350 (GRCm39)	Y59C	probably benign	Het
Zc3hav1	T	C	6: 38,331,045 (GRCm39)	Y38C	probably damaging	Het
Zfp119a	C	A	17: 56,175,343 (GRCm39)	D51Y	possibly damaging	Het

Other mutations in Fuom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1248:Fuom	UTSW	7	139,679,631 (GRCm39)	splice site	probably benign
R1938:Fuom	UTSW	7	139,679,521 (GRCm39)	missense	probably benign	0.01
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'- CTGGGACTCCAACTTTGCTC -3'
(R):5'- GTCTCTGGATCCTTGAAACTCC -3'

Sequencing Primer
(F):5'- GGGACTCCAACTTTGCTCTCAGAG -3'
(R):5'- TGGATCCTTGAAACTCCAGCATCAG -3'

Posted On

2014-12-29