Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02389:Fam216a'

291668

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam216a

Ensembl Gene

ENSMUSG00000029463

Gene Name

family with sequence similarity 216, member A

Synonyms

1500011H22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

122502647-122510405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122505574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 129 (T129A)

Ref Sequence

ENSEMBL: ENSMUSP00000031419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000031420] [ENSMUST00000111729] [ENSMUST00000118765] [ENSMUST00000118830] [ENSMUST00000127608] [ENSMUST00000155671]

AlphaFold

Q9DB54

Predicted Effect

probably damaging
Transcript: ENSMUST00000031419
AA Change: T129A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463
AA Change: T129A

Domain	Start	End	E-Value	Type
Pfam:FAM216B	50	160	6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031420

SMART Domains

Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	8	254	5.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111729

SMART Domains

Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118765

SMART Domains

Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
PDB:1W24\|A	1	65	7e-42	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000118830

SMART Domains

Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	6	162	1.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127608

SMART Domains

Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	8	189	1.2e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155671

SMART Domains

Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	1	158	3.4e-24	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 64,053,826 (GRCm39)	S11N	probably null	Het
Aqp9	T	C	9: 71,030,188 (GRCm39)	I200V	possibly damaging	Het
Cntn2	T	C	1: 132,453,059 (GRCm39)	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Dennd3	A	G	15: 73,438,905 (GRCm39)	D1091G	probably damaging	Het
Dock2	T	C	11: 34,589,567 (GRCm39)		probably benign	Het
Dscam	T	A	16: 96,442,097 (GRCm39)	I1577F	probably benign	Het
Egflam	A	T	15: 7,279,559 (GRCm39)	N482K	probably benign	Het
Fbxo40	T	C	16: 36,790,136 (GRCm39)	M325V	probably benign	Het
Fbxw8	C	T	5: 118,267,020 (GRCm39)	V148M	possibly damaging	Het
Fcgbp	C	T	7: 27,774,596 (GRCm39)	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,618,388 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,616,729 (GRCm39)	T408A	probably benign	Het
H2-T3	A	G	17: 36,497,500 (GRCm39)	M59T	probably benign	Het
Jakmip1	C	T	5: 37,258,187 (GRCm39)	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,200,312 (GRCm39)	G110D	unknown	Het
Myo7a	C	T	7: 97,756,198 (GRCm39)		probably null	Het
Nlrp9c	T	A	7: 26,093,632 (GRCm39)	Q11L	probably benign	Het
Or14a257	A	G	7: 86,138,336 (GRCm39)	L141P	probably damaging	Het
Or5b94	A	T	19: 12,651,899 (GRCm39)	D110V	probably benign	Het
Or6c75	T	A	10: 129,336,939 (GRCm39)	M62K	probably benign	Het
Or6c8	A	C	10: 128,915,099 (GRCm39)	I244M	probably damaging	Het
Pdzd8	A	G	19: 59,289,825 (GRCm39)	I525T	probably benign	Het
Pign	A	T	1: 105,574,506 (GRCm39)	L280*	probably null	Het
Pik3r4	T	G	9: 105,527,530 (GRCm39)	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,498,506 (GRCm39)	Q471*	probably null	Het
Prrc2c	A	G	1: 162,520,439 (GRCm39)	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,272,808 (GRCm39)	R52C	probably damaging	Het
Rfx2	T	C	17: 57,115,325 (GRCm39)		probably benign	Het
Sh3bp4	T	C	1: 89,072,870 (GRCm39)	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,251,733 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,857,624 (GRCm39)	I840F	probably benign	Het
Slc5a4b	A	T	10: 75,908,299 (GRCm39)	Y364*	probably null	Het
Slitrk1	A	G	14: 109,149,754 (GRCm39)	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,028,567 (GRCm39)	A499T	probably benign	Het
Tnks2	T	A	19: 36,861,503 (GRCm39)	S951R	probably benign	Het
Trim30c	A	G	7: 104,031,381 (GRCm39)	F478S	probably benign	Het
Tyro3	C	T	2: 119,635,345 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,042 (GRCm39)	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,315,816 (GRCm39)	C215S	probably damaging	Het
Zzef1	C	T	11: 72,782,043 (GRCm39)	P1995S	probably benign	Het
Zzef1	T	A	11: 72,790,364 (GRCm39)	V2106D	possibly damaging	Het

Other mutations in Fam216a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01881:Fam216a	APN	5	122,505,698 (GRCm39)	missense	probably damaging	1.00
R0487:Fam216a	UTSW	5	122,508,576 (GRCm39)	critical splice donor site	probably null
R0690:Fam216a	UTSW	5	122,505,709 (GRCm39)	missense	probably damaging	1.00
R5190:Fam216a	UTSW	5	122,505,584 (GRCm39)	critical splice acceptor site	probably null
R7084:Fam216a	UTSW	5	122,507,623 (GRCm39)	missense	probably benign	0.31
R7651:Fam216a	UTSW	5	122,505,445 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16