Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03056:Fam216b'

409229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam216b

Ensembl Gene

ENSMUSG00000045655

Gene Name

family with sequence similarity 216, member B

Synonyms

AU021034

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03056

Quality Score

Status

Chromosome

Chromosomal Location

78318464-78326447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78320223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 86 (H86Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066437] [ENSMUST00000118785] [ENSMUST00000173826]

AlphaFold

Q8CC14

Predicted Effect

probably benign
Transcript: ENSMUST00000066437
AA Change: H127Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000064524
Gene: ENSMUSG00000045655
AA Change: H127Y

Domain	Start	End	E-Value	Type
Pfam:FAM216B	3	107	1.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118785
AA Change: H86Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113562
Gene: ENSMUSG00000045655
AA Change: H86Y

Domain	Start	End	E-Value	Type
Pfam:FAM216B	1	67	3.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174283

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
A2m	A	G	6: 121,647,862 (GRCm39)	H1118R	probably damaging	Het
Aff1	G	A	5: 103,958,947 (GRCm39)	V339I	probably damaging	Het
Ank1	G	T	8: 23,631,195 (GRCm39)	V107F	probably damaging	Het
Aox3	T	C	1: 58,198,180 (GRCm39)		probably null	Het
Cd160	T	C	3: 96,713,127 (GRCm39)	T46A	probably benign	Het
Cimip2a	T	A	2: 25,111,367 (GRCm39)	M232K	possibly damaging	Het
Col20a1	A	T	2: 180,636,682 (GRCm39)	Y221F	probably damaging	Het
Ddx18	C	T	1: 121,492,264 (GRCm39)	A148T	probably benign	Het
Dennd5b	A	G	6: 148,956,570 (GRCm39)	M307T	probably damaging	Het
Fh1	A	T	1: 175,433,728 (GRCm39)	C374S	probably damaging	Het
Fkbp14	A	G	6: 54,556,529 (GRCm39)	V207A	probably benign	Het
Gucy1a1	T	C	3: 82,020,594 (GRCm39)	K101R	probably benign	Het
Kcnk2	G	T	1: 189,027,908 (GRCm39)	Q116K	possibly damaging	Het
Kdm5b	C	A	1: 134,515,717 (GRCm39)	Q114K	probably damaging	Het
Kif12	C	T	4: 63,085,193 (GRCm39)	R516Q	probably null	Het
Lca5l	C	T	16: 95,962,551 (GRCm39)	C463Y	probably benign	Het
Lgsn	T	A	1: 31,242,705 (GRCm39)	Y262*	probably null	Het
Lig4	A	G	8: 10,022,580 (GRCm39)	I400T	possibly damaging	Het
Mink1	T	A	11: 70,503,409 (GRCm39)		probably null	Het
Mprip	T	A	11: 59,662,518 (GRCm39)	I2243N	probably damaging	Het
Myo1f	A	T	17: 33,804,574 (GRCm39)	Y426F	probably damaging	Het
Naip2	T	A	13: 100,298,795 (GRCm39)	S414C	possibly damaging	Het
Nrg1	T	C	8: 32,311,451 (GRCm39)	I363V	possibly damaging	Het
Or4f54	A	T	2: 111,123,517 (GRCm39)	R301S	possibly damaging	Het
Or52r1b	A	T	7: 102,690,958 (GRCm39)	I86L	possibly damaging	Het
Serpinb9d	T	C	13: 33,386,736 (GRCm39)	V268A	probably damaging	Het
Slc15a1	A	G	14: 121,728,695 (GRCm39)	F17L	possibly damaging	Het
Slc9a3	T	A	13: 74,298,938 (GRCm39)	V119E	probably damaging	Het
Sspo	T	A	6: 48,447,472 (GRCm39)	M2346K	probably benign	Het
Tcf4	G	T	18: 69,784,283 (GRCm39)		probably benign	Het
Trabd2b	T	C	4: 114,266,535 (GRCm39)	V183A	probably damaging	Het
Ust	T	C	10: 8,083,326 (GRCm39)	H350R	probably benign	Het
Zfp952	T	A	17: 33,221,740 (GRCm39)	V35E	probably damaging	Het

Other mutations in Fam216b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0594:Fam216b	UTSW	14	78,324,114 (GRCm39)	missense	possibly damaging	0.92
R5389:Fam216b	UTSW	14	78,322,503 (GRCm39)	missense	possibly damaging	0.71
R7206:Fam216b	UTSW	14	78,322,567 (GRCm39)	missense	probably damaging	0.99
R8178:Fam216b	UTSW	14	78,322,504 (GRCm39)	missense	possibly damaging	0.60
R9092:Fam216b	UTSW	14	78,322,537 (GRCm39)	missense	possibly damaging	0.71

Posted On

2016-08-02