Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01082:Fam110b'

50867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam110b

Ensembl Gene

ENSMUSG00000049119

Gene Name

family with sequence similarity 110, member B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01082

Quality Score

Status

Chromosome

Chromosomal Location

5644090-6108223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5799461 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 293 (A293V)

Ref Sequence

ENSEMBL: ENSMUSP00000127942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054857] [ENSMUST00000108380] [ENSMUST00000156582] [ENSMUST00000171403]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054857
AA Change: A293V

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062734
Gene: ENSMUSG00000049119
AA Change: A293V

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	11	118	1.6e-56	PFAM
low complexity region	127	141	N/A	INTRINSIC
low complexity region	215	233	N/A	INTRINSIC
Pfam:FAM110_C	247	358	2.2e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108380
AA Change: A293V

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104017
Gene: ENSMUSG00000049119
AA Change: A293V

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	13	118	4.8e-50	PFAM
low complexity region	127	141	N/A	INTRINSIC
low complexity region	215	233	N/A	INTRINSIC
Pfam:FAM110_C	249	357	1.5e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145365

Predicted Effect

probably benign
Transcript: ENSMUST00000156582

SMART Domains

Protein: ENSMUSP00000122351
Gene: ENSMUSG00000049119

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	11	87	4e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171403
AA Change: A293V

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127942
Gene: ENSMUSG00000049119
AA Change: A293V

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	11	118	1.6e-56	PFAM
low complexity region	127	141	N/A	INTRINSIC
low complexity region	215	233	N/A	INTRINSIC
Pfam:FAM110_C	247	358	2.2e-50	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,314,114	S723F	probably damaging	Het
Cacng5	C	T	11: 107,881,705	V106I	probably benign	Het
Ccdc116	A	G	16: 17,141,992	S278P	probably damaging	Het
Cep152	A	T	2: 125,569,545		probably benign	Het
Cftr	T	C	6: 18,226,103	V350A	probably damaging	Het
Dsc2	A	T	18: 20,043,792	N399K	probably damaging	Het
Eif3d	T	C	15: 77,959,743	T468A	probably damaging	Het
Flrt1	T	C	19: 7,095,974	T403A	probably benign	Het
Hist1h3e	A	G	13: 23,562,374		probably benign	Het
Ift140	T	A	17: 25,048,455	V609E	possibly damaging	Het
Klb	G	A	5: 65,375,940	V531I	possibly damaging	Het
Krt73	T	C	15: 101,798,937		probably null	Het
Mcm2	A	G	6: 88,887,877	V539A	probably benign	Het
Myb	A	G	10: 21,152,944	V85A	probably damaging	Het
Ndufs1	T	C	1: 63,164,817	E102G	probably damaging	Het
Nr5a2	C	A	1: 136,845,468	A499S	probably benign	Het
Olfr1201	T	C	2: 88,795,293	F304L	probably benign	Het
Olfr1256	A	T	2: 89,844,063		probably benign	Het
Olfr126	T	A	17: 37,850,623	S10R	probably benign	Het
Opa1	A	T	16: 29,618,115		probably benign	Het
Pcnx	G	A	12: 81,990,598	E1877K	possibly damaging	Het
Sel1l	A	G	12: 91,811,908	V711A	probably benign	Het
Slc22a16	A	G	10: 40,573,864	T120A	probably benign	Het
Slc26a1	G	T	5: 108,671,878	T485N	possibly damaging	Het
Sp100	T	C	1: 85,670,020	V201A	possibly damaging	Het
Spz1	T	G	13: 92,575,521	K149T	probably damaging	Het
Stxbp5l	A	G	16: 37,204,578	S553P	possibly damaging	Het
Szt2	A	G	4: 118,397,624	S290P	probably damaging	Het
Tbc1d10c	A	G	19: 4,189,027	Y165H	probably damaging	Het
Tnxb	C	A	17: 34,714,610	Q2335K	probably damaging	Het
Trim33	T	C	3: 103,326,859	I471T	possibly damaging	Het
Vsig10	A	G	5: 117,334,905	I188V	probably benign	Het
Zfp109	A	T	7: 24,234,359	L45Q	probably damaging	Het

Other mutations in Fam110b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam110b	APN	4	5799481	missense	probably benign	0.00
IGL03022:Fam110b	APN	4	5799448	missense	probably benign	0.00
R1033:Fam110b	UTSW	4	5799440	missense	probably benign	0.06
R1127:Fam110b	UTSW	4	5799434	missense	probably damaging	1.00
R1525:Fam110b	UTSW	4	5799578	missense	possibly damaging	0.90
R1824:Fam110b	UTSW	4	5799029	missense	probably benign	0.01
R1894:Fam110b	UTSW	4	5798840	missense	probably damaging	0.99
R2032:Fam110b	UTSW	4	5799460	missense	probably benign	0.09
R4471:Fam110b	UTSW	4	5799092	missense	probably benign
R5436:Fam110b	UTSW	4	5799104	missense	probably benign	0.45
R5640:Fam110b	UTSW	4	5798689	missense	probably damaging	1.00
R7291:Fam110b	UTSW	4	5798895	missense	probably benign	0.03
R8037:Fam110b	UTSW	4	5799511	missense	possibly damaging	0.94
R8515:Fam110b	UTSW	4	5799380	missense	probably benign	0.00

Posted On

2013-06-21