Mutagenetix > Incidental Mutations

Incidental Mutation 'R0560:Fam161b'

45840

Institutional Source

Beutler Lab

Gene Symbol

Fam161b

Ensembl Gene

ENSMUSG00000021234

Gene Name

family with sequence similarity 161, member B

Synonyms

MMRRC Submission

038752-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0560 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

84345309-84361833 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84357718 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 63 (D63N)

Ref Sequence

ENSEMBL: ENSMUSP00000070407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021659] [ENSMUST00000021661] [ENSMUST00000065536] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000152913]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021659
AA Change: D63N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
AA Change: D63N

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC
Pfam:UPF0564	168	535	5.3e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021661

SMART Domains

Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	3.9e-8	PFAM
Pfam:FAD_binding_3	334	435	1.3e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000065536
AA Change: D63N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
AA Change: D63N

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC
Pfam:UPF0564	168	535	8.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110276

SMART Domains

Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	5.1e-8	PFAM
Pfam:FAD_binding_3	334	435	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110278

SMART Domains

Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	6.8e-8	PFAM
Pfam:FAD_binding_3	334	410	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133230

Predicted Effect

probably benign
Transcript: ENSMUST00000145522

SMART Domains

Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SCOP:d1foha5	35	167	2e-6	SMART
PDB:4K22\|B	90	156	3e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150391

Predicted Effect

probably benign
Transcript: ENSMUST00000152913

SMART Domains

Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1foha5	39	269	1e-10	SMART
PDB:4K22\|B	94	274	1e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153450

Meta Mutation Damage Score

0.1066

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (26/26)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,254,498	L230Q	probably damaging	Het
AI464131	G	A	4: 41,498,167	R488W	probably damaging	Het
Apob	T	C	12: 8,005,101	Y1334H	probably damaging	Het
Arsb	A	G	13: 93,790,198	T159A	possibly damaging	Het
Asb18	A	C	1: 90,014,528	V17G	probably damaging	Het
Bicd1	A	G	6: 149,511,962	K284E	probably benign	Het
Bspry	A	G	4: 62,486,449	R161G	probably damaging	Het
Ccdc138	A	G	10: 58,575,717	T636A	probably damaging	Het
Cubn	A	T	2: 13,428,680	W1140R	probably damaging	Het
Cyp2t4	A	G	7: 27,158,511	T479A	probably damaging	Het
Dtx3l	A	G	16: 35,932,935	S434P	probably damaging	Het
Duox2	A	G	2: 122,291,554	V611A	probably benign	Het
Epb41l3	T	G	17: 69,274,897		probably null	Het
Gm5422	G	A	10: 31,249,244		noncoding transcript	Het
Gpr158	A	T	2: 21,825,274	D710V	probably damaging	Het
Krtcap2	T	C	3: 89,249,142		probably null	Het
Mtrf1	T	A	14: 79,406,850	D199E	probably damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Ncf2	T	A	1: 152,821,522	Y47N	probably damaging	Het
Ovgp1	T	C	3: 105,986,410		probably benign	Het
Siglec1	G	T	2: 131,070,346	T1692N	probably benign	Het
Slc10a2	T	C	8: 5,089,092	N284S	probably benign	Het
Slfn3	T	C	11: 83,213,152	F283S	probably damaging	Het
Trank1	T	C	9: 111,391,086	F2297S	possibly damaging	Het
Vmn2r69	A	G	7: 85,409,714		probably null	Het
Vps13d	T	C	4: 145,054,190	E3957G	probably damaging	Het

Other mutations in Fam161b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Fam161b	APN	12	84361751	unclassified	probably benign
IGL00900:Fam161b	APN	12	84355969	missense	probably benign	0.05
IGL00905:Fam161b	APN	12	84357685	missense	probably benign	0.00
IGL01123:Fam161b	APN	12	84357664	missense	probably benign	0.00
IGL02156:Fam161b	APN	12	84354753	missense	probably benign	0.00
IGL02630:Fam161b	APN	12	84353914	missense	probably benign	0.03
IGL02670:Fam161b	APN	12	84357594	missense	probably benign	0.00
IGL03160:Fam161b	APN	12	84353825	missense	probably benign	0.05
R0569:Fam161b	UTSW	12	84348639	missense	probably damaging	1.00
R1834:Fam161b	UTSW	12	84348778	splice site	probably benign
R2070:Fam161b	UTSW	12	84356428	missense	probably benign	0.00
R3784:Fam161b	UTSW	12	84361690	critical splice donor site	probably null
R3786:Fam161b	UTSW	12	84361690	critical splice donor site	probably null
R4697:Fam161b	UTSW	12	84348558	unclassified	probably benign
R5247:Fam161b	UTSW	12	84357750	missense	probably damaging	1.00
R5390:Fam161b	UTSW	12	84348634	missense	probably damaging	0.99
R5668:Fam161b	UTSW	12	84356350	missense	probably damaging	0.96
R6891:Fam161b	UTSW	12	84354780	missense	probably damaging	1.00
R7189:Fam161b	UTSW	12	84348646	missense	probably damaging	1.00
R7410:Fam161b	UTSW	12	84357801	missense	probably benign	0.04
R7514:Fam161b	UTSW	12	84357738	missense	possibly damaging	0.76
R8035:Fam161b	UTSW	12	84348656	missense	probably damaging	1.00
R8219:Fam161b	UTSW	12	84346874	missense	probably benign	0.00
R8428:Fam161b	UTSW	12	84357595	missense	probably benign	0.00
X0019:Fam161b	UTSW	12	84354973	missense	probably benign	0.30
Z1176:Fam161b	UTSW	12	84356053	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGCTCTTGTCTTGGAAGAAGCTC -3'
(R):5'- ACACGCTGTGTTGTTCAGTGCC -3'

Sequencing Primer
(F):5'- TTGGAAGAAGCTCTCCAAGTC -3'
(R):5'- AGACACTGAGCCAGAAGATG -3'

Posted On

2013-06-11