Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00944:Fam163b'

26932

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam163b

Ensembl Gene

ENSMUSG00000009216

Gene Name

family with sequence similarity 163, member B

Synonyms

C630035N08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL00944

Quality Score

Status

Chromosome

Chromosomal Location

27000391-27032489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27003597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 19 (L19P)

Ref Sequence

ENSEMBL: ENSMUSP00000127556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091233] [ENSMUST00000151224]

AlphaFold

Q8BUM6

Predicted Effect

probably benign
Transcript: ENSMUST00000091233

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TSP1	50	106	5.14e-7	SMART
Pfam:ADAM_spacer1	214	331	5.4e-28	PFAM
low complexity region	345	358	N/A	INTRINSIC
TSP1	573	629	8.15e-1	SMART
TSP1	631	692	1.85e-2	SMART
TSP1	694	744	4.15e-1	SMART
TSP1	747	796	9.98e-5	SMART
TSP1	803	861	4.95e-2	SMART
TSP1	863	914	2.53e-6	SMART
Pfam:PLAC	922	953	1.4e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139633

Predicted Effect

probably damaging
Transcript: ENSMUST00000151224
AA Change: L19P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216
AA Change: L19P

Domain	Start	End	E-Value	Type
Pfam:FAM163	1	167	1.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169787

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10b	A	G	11: 43,092,988 (GRCm39)	N441S	probably damaging	Het
Bod1l	A	G	5: 41,974,166 (GRCm39)	C2383R	probably benign	Het
Dapk3	G	T	10: 81,019,910 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,757,930 (GRCm39)	D58G	possibly damaging	Het
Etl4	G	A	2: 20,534,865 (GRCm39)	V107I	possibly damaging	Het
Fbxl20	A	C	11: 98,004,068 (GRCm39)	F73L	probably damaging	Het
Foxj2	T	C	6: 122,816,594 (GRCm39)	L492P	probably damaging	Het
Hfm1	A	T	5: 107,049,996 (GRCm39)	V391E	possibly damaging	Het
Ift74	T	C	4: 94,581,259 (GRCm39)	Y586H	probably damaging	Het
Klhl12	A	G	1: 134,411,491 (GRCm39)	N280S	probably benign	Het
Lctl	T	A	9: 64,040,411 (GRCm39)	Y292*	probably null	Het
Ltb	C	A	17: 35,413,642 (GRCm39)	Q49K	possibly damaging	Het
Mapk1	T	A	16: 16,853,322 (GRCm39)	D289E	probably benign	Het
Mideas	A	G	12: 84,207,322 (GRCm39)		probably benign	Het
Mroh2b	C	T	15: 4,980,609 (GRCm39)		probably benign	Het
Myot	T	C	18: 44,470,181 (GRCm39)	S53P	possibly damaging	Het
Opn5	G	A	17: 42,922,119 (GRCm39)	L28F	probably damaging	Het
Or5b97	A	T	19: 12,878,719 (GRCm39)	Y142N	probably benign	Het
Or8k39	A	G	2: 86,563,905 (GRCm39)	I17T	possibly damaging	Het
Pals2	T	C	6: 50,140,436 (GRCm39)	V152A	possibly damaging	Het
Pld1	T	A	3: 28,099,247 (GRCm39)		probably null	Het
Rc3h2	A	G	2: 37,288,250 (GRCm39)		probably benign	Het
Robo2	T	A	16: 73,730,585 (GRCm39)	H1009L	possibly damaging	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Sh3bp1	A	T	15: 78,789,314 (GRCm39)	D288V	possibly damaging	Het
Smpd4	T	C	16: 17,460,621 (GRCm39)	I809T	probably benign	Het
Spata6	C	T	4: 111,663,125 (GRCm39)		probably benign	Het
Trnau1ap	C	A	4: 132,055,817 (GRCm39)	V30L	possibly damaging	Het
Trpm4	T	C	7: 44,967,773 (GRCm39)	H386R	probably benign	Het
Ttc3	T	G	16: 94,227,620 (GRCm39)		probably null	Het
Ufd1	T	C	16: 18,643,781 (GRCm39)	V180A	possibly damaging	Het
Vmn2r102	A	G	17: 19,899,154 (GRCm39)	I499V	probably damaging	Het
Zfp112	C	A	7: 23,825,021 (GRCm39)	Q330K	probably benign	Het
Zfp668	G	A	7: 127,467,079 (GRCm39)	R166W	probably damaging	Het

Other mutations in Fam163b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01602:Fam163b	APN	2	27,002,688 (GRCm39)	missense	probably damaging	0.99
IGL01605:Fam163b	APN	2	27,002,688 (GRCm39)	missense	probably damaging	0.99
IGL02074:Fam163b	APN	2	27,003,570 (GRCm39)	missense	probably damaging	1.00
IGL02582:Fam163b	APN	2	27,003,570 (GRCm39)	missense	probably damaging	1.00
R0238:Fam163b	UTSW	2	27,002,646 (GRCm39)	missense	probably damaging	1.00
R0238:Fam163b	UTSW	2	27,002,646 (GRCm39)	missense	probably damaging	1.00
R0535:Fam163b	UTSW	2	27,002,778 (GRCm39)	missense	probably benign	0.05
R0611:Fam163b	UTSW	2	27,003,583 (GRCm39)	missense	probably damaging	1.00
R1333:Fam163b	UTSW	2	27,003,659 (GRCm39)	utr 5 prime	probably benign
R1768:Fam163b	UTSW	2	27,002,874 (GRCm39)	missense	possibly damaging	0.86
R2437:Fam163b	UTSW	2	27,002,698 (GRCm39)	missense	probably damaging	1.00
R5096:Fam163b	UTSW	2	27,002,761 (GRCm39)	missense	probably benign	0.00
R6277:Fam163b	UTSW	2	27,002,763 (GRCm39)	missense	probably benign	0.45
R7142:Fam163b	UTSW	2	27,003,567 (GRCm39)	missense	probably damaging	1.00
R7648:Fam163b	UTSW	2	27,002,752 (GRCm39)	missense	probably benign	0.00
R8361:Fam163b	UTSW	2	27,002,650 (GRCm39)	missense	probably benign	0.00
R8363:Fam163b	UTSW	2	27,002,650 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17