Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02670:Fam8a1'

302904

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam8a1

Ensembl Gene

ENSMUSG00000069237

Gene Name

family with sequence similarity 8, member A1

Synonyms

C78339

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02670

Quality Score

Status

Chromosome

Chromosomal Location

46669522-46678056 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46673604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 284 (M284V)

Ref Sequence

ENSEMBL: ENSMUSP00000097144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099547]

AlphaFold

Q3URQ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099547
AA Change: M284V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237
AA Change: M284V

Domain	Start	End	E-Value	Type
low complexity region	31	56	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	168	190	N/A	INTRINSIC
Pfam:RDD	229	389	2.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150376

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,967,305	Q2193*	probably null	Het
Asb1	T	C	1: 91,546,918		probably benign	Het
Cnot6	G	A	11: 49,685,114	Q178*	probably null	Het
Col5a1	C	T	2: 27,974,715	A737V	unknown	Het
Cyp27b1	T	C	10: 127,050,358	S303P	probably benign	Het
Dnah5	T	C	15: 28,409,296	L3620P	probably damaging	Het
Dock7	A	T	4: 98,966,286		probably null	Het
Fam161b	T	C	12: 84,357,594	D104G	probably benign	Het
Fkbp3	T	A	12: 65,069,103	K65*	probably null	Het
Gatb	A	G	3: 85,613,551		probably null	Het
Gm572	A	T	4: 148,651,228	H38L	probably benign	Het
Gm6576	A	C	15: 27,025,512		noncoding transcript	Het
L2hgdh	G	A	12: 69,692,480	R406W	possibly damaging	Het
Lmo7	A	T	14: 101,880,980	T214S	probably damaging	Het
Map3k12	T	C	15: 102,503,546	H361R	probably benign	Het
Mios	T	C	6: 8,235,378		probably benign	Het
Mta1	T	C	12: 113,130,121	L315P	probably damaging	Het
Pask	A	C	1: 93,310,818	V1315G	probably damaging	Het
Pias4	A	T	10: 81,164,070	C50S	probably damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sgk1	T	A	10: 21,928,546	C92S	probably benign	Het
Slc2a13	C	T	15: 91,497,509	G259E	probably damaging	Het
Slc5a4b	A	G	10: 76,075,100	C301R	probably damaging	Het
Sstr4	G	T	2: 148,396,533	G355*	probably null	Het
Tnrc6a	T	A	7: 123,171,312	L775Q	possibly damaging	Het
Vmn1r218	A	G	13: 23,137,004	I94V	probably benign	Het
Xpa	A	G	4: 46,185,682	F99L	probably benign	Het

Other mutations in Fam8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Fam8a1	APN	13	46673671	critical splice donor site	probably null
IGL02067:Fam8a1	APN	13	46669848	missense	possibly damaging	0.49
R0626:Fam8a1	UTSW	13	46671223	missense	probably damaging	1.00
R4594:Fam8a1	UTSW	13	46671266	missense	probably damaging	1.00
R5155:Fam8a1	UTSW	13	46673562	missense	probably benign	0.34
R5652:Fam8a1	UTSW	13	46674338	missense	probably damaging	1.00
R5654:Fam8a1	UTSW	13	46674338	missense	probably damaging	1.00
R5655:Fam8a1	UTSW	13	46674338	missense	probably damaging	1.00
R6192:Fam8a1	UTSW	13	46669623	missense	probably damaging	1.00
R7637:Fam8a1	UTSW	13	46671247	missense	probably benign	0.02
R8345:Fam8a1	UTSW	13	46673578	missense	probably damaging	1.00
R8930:Fam8a1	UTSW	13	46674392	missense	probably benign	0.18
R8932:Fam8a1	UTSW	13	46674392	missense	probably benign	0.18

Posted On

2015-04-16