Mutagenetix > Incidental Mutation

Incidental Mutation 'R2925:Fuom'

255707

Institutional Source

Beutler Lab

Gene Symbol

Fuom

Ensembl Gene

ENSMUSG00000025466

Gene Name

fucose mutarotase

Synonyms

1810014F10Rik

MMRRC Submission

040510-MU

Accession Numbers

Essential gene?

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

Stock #

R2925 (G1)

Quality Score

225

Status

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: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

95% (40/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,407,755 (GRCm39)	T93A	probably damaging	Het
Acte1	A	T	7: 143,437,736 (GRCm39)	R147*	probably null	Het
Akr1c21	A	G	13: 4,626,349 (GRCm39)		probably null	Het
Alk	A	G	17: 72,910,202 (GRCm39)	V168A	probably benign	Het
Ap4b1	A	G	3: 103,727,997 (GRCm39)	E337G	probably damaging	Het
Bltp1	G	T	3: 37,061,271 (GRCm39)	A3327S	probably damaging	Het
Btn2a2	A	G	13: 23,665,984 (GRCm39)	S283P	probably damaging	Het
Ctcfl	C	T	2: 172,936,489 (GRCm39)	E628K	probably damaging	Het
Cul9	G	A	17: 46,821,907 (GRCm39)	T1856M	probably benign	Het
Defb41	T	C	1: 18,330,857 (GRCm39)	D30G	probably damaging	Het
Dnai1	A	T	4: 41,597,919 (GRCm39)	I74F	probably damaging	Het
Ecpas	T	A	4: 58,833,928 (GRCm39)	K851*	probably null	Het
Fbln2	T	A	6: 91,242,837 (GRCm39)	C846S	probably damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lyz3	C	T	10: 117,070,336 (GRCm39)	R147Q	probably benign	Het
Man2b2	A	G	5: 36,981,446 (GRCm39)	F224L	probably benign	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
Nek4	G	A	14: 30,673,667 (GRCm39)	G29S	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
Or5ac24	A	T	16: 59,165,706 (GRCm39)	Y119*	probably null	Het
Or5m11b	T	A	2: 85,806,125 (GRCm39)	C179*	probably null	Het
Or8k32	C	T	2: 86,368,891 (GRCm39)	D121N	probably damaging	Het
Or9a4	T	A	6: 40,548,342 (GRCm39)	S7R	probably benign	Het
P2ry13	G	A	3: 59,116,801 (GRCm39)	H326Y	probably benign	Het
Plec	A	G	15: 76,062,452 (GRCm39)	F2563S	probably damaging	Het
Rc3h1	A	G	1: 160,782,546 (GRCm39)	Y675C	probably damaging	Het
Samd3	T	A	10: 26,127,785 (GRCm39)	S288T	probably benign	Het
Scaf4	G	T	16: 90,047,177 (GRCm39)	P400Q	unknown	Het
Selplg	T	C	5: 113,958,240 (GRCm39)	D22G	possibly damaging	Het
Slc30a6	T	C	17: 74,708,999 (GRCm39)		probably benign	Het
Syt3	T	A	7: 44,045,222 (GRCm39)	V518E	probably damaging	Het
Tnks	G	A	8: 35,432,815 (GRCm39)	A2V	unknown	Het
Upk3a	A	G	15: 84,902,350 (GRCm39)	Y59C	probably benign	Het
Usp4	T	C	9: 108,245,055 (GRCm39)	L331P	probably damaging	Het
Zbed5	A	G	5: 129,932,039 (GRCm39)	T663A	possibly damaging	Het
Zbtb11	G	A	16: 55,794,447 (GRCm39)	R8Q	probably benign	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
R2924: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'- TGCTGGGACTCCAACTTTGC -3'
(R):5'- TCTCTGGATCCTTGAAACTCCAG -3'

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

Posted On

2014-12-29