Mutagenetix > Incidental Mutation

Incidental Mutation 'R1215:Fam184b'

99568

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

039284-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1215 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45529705-45639614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45584178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 237 (R237H)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016023]

AlphaFold

Q0KK56

Predicted Effect

probably damaging
Transcript: ENSMUST00000016023
AA Change: R237H

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

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: R237H

Domain	Start	End	E-Value	Type
Pfam:FAM184	50	248	7.7e-28	PFAM
coiled coil region	284	337	N/A	INTRINSIC
coiled coil region	387	495	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
coiled coil region	575	620	N/A	INTRINSIC
coiled coil region	686	775	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Art5	C	T	7: 102,097,909	R123H	probably damaging	Het
Azin2	A	G	4: 128,949,696	S66P	probably damaging	Het
Cep295	T	C	9: 15,327,882	E1865G	probably benign	Het
Ces1a	A	G	8: 93,032,690	C273R	probably damaging	Het
Cfap44	A	G	16: 44,419,303	Y571C	probably damaging	Het
Cntfr	C	A	4: 41,662,064	W226L	probably damaging	Het
Csmd3	A	T	15: 48,004,831		probably null	Het
Cyp2a4	C	T	7: 26,314,801	P468S	possibly damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
E130308A19Rik	T	A	4: 59,690,743	D192E	probably benign	Het
Fmn1	T	A	2: 113,693,030	Y1247*	probably null	Het
Grb14	T	C	2: 64,917,264	S18G	probably benign	Het
Hs2st1	G	A	3: 144,465,141	T90I	possibly damaging	Het
Mcc	A	T	18: 44,468,494	N589K	possibly damaging	Het
Mff	T	A	1: 82,741,888	S196T	probably benign	Het
Nyap1	C	T	5: 137,735,133	W546*	probably null	Het
Olfr62	A	T	4: 118,666,299	M261L	possibly damaging	Het
Ppp2r3a	A	G	9: 101,212,684	S147P	probably benign	Het
Rsph14	T	C	10: 75,025,066	H134R	probably benign	Het
Slc25a3	G	A	10: 91,117,308	A274V	possibly damaging	Het
Slc43a2	T	A	11: 75,562,862	W229R	probably damaging	Het
Slco4c1	C	A	1: 96,828,871	L575F	probably damaging	Het
Smyd4	T	A	11: 75,390,295	I198N	possibly damaging	Het
Trpm6	A	G	19: 18,796,498	D413G	probably damaging	Het
Ush2a	A	G	1: 188,957,282	T33A	possibly damaging	Het
Zfp871	A	T	17: 32,775,972	D57E	possibly damaging	Het
Zfyve9	T	C	4: 108,650,229	Q1176R	probably benign	Het

Other mutations in Fam184b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Fam184b	APN	5	45539749	missense	probably benign	0.17
IGL00781:Fam184b	APN	5	45555192	splice site	probably null
IGL01636:Fam184b	APN	5	45584295	missense	probably benign	0.00
IGL02008:Fam184b	APN	5	45532823	missense	possibly damaging	0.75
IGL02123:Fam184b	APN	5	45639151	missense	possibly damaging	0.92
IGL02177:Fam184b	APN	5	45532815	nonsense	probably null
IGL02192:Fam184b	APN	5	45537720	missense	probably benign	0.00
IGL02478:Fam184b	APN	5	45537697	missense	probably damaging	0.99
IGL03368:Fam184b	APN	5	45531824	missense	possibly damaging	0.91
R0003:Fam184b	UTSW	5	45555194	splice site	probably benign
R0129:Fam184b	UTSW	5	45532778	missense	probably damaging	1.00
R0420:Fam184b	UTSW	5	45584512	missense	probably damaging	1.00
R0647:Fam184b	UTSW	5	45584590	missense	probably benign
R1374:Fam184b	UTSW	5	45555143	missense	probably benign
R1466:Fam184b	UTSW	5	45580509	splice site	probably benign
R1773:Fam184b	UTSW	5	45584334	missense	possibly damaging	0.60
R1865:Fam184b	UTSW	5	45531889	missense	possibly damaging	0.91
R3615:Fam184b	UTSW	5	45582815	missense	possibly damaging	0.56
R3616:Fam184b	UTSW	5	45582815	missense	possibly damaging	0.56
R4180:Fam184b	UTSW	5	45539764	missense	probably benign	0.00
R4375:Fam184b	UTSW	5	45542343	missense	probably benign
R4674:Fam184b	UTSW	5	45582888	nonsense	probably null
R4942:Fam184b	UTSW	5	45573307	missense	probably damaging	0.97
R5021:Fam184b	UTSW	5	45573262	missense	probably benign	0.01
R5450:Fam184b	UTSW	5	45539801	missense	probably benign
R5731:Fam184b	UTSW	5	45553129	missense	probably benign	0.00
R5858:Fam184b	UTSW	5	45639119	missense	probably damaging	0.99
R6032:Fam184b	UTSW	5	45582896	missense	probably benign	0.01
R6032:Fam184b	UTSW	5	45582896	missense	probably benign	0.01
R6060:Fam184b	UTSW	5	45553147	missense	probably damaging	0.99
R6088:Fam184b	UTSW	5	45584012	missense	probably damaging	1.00
R6416:Fam184b	UTSW	5	45537653	missense	probably benign	0.04
R6932:Fam184b	UTSW	5	45532901	splice site	probably null
R6956:Fam184b	UTSW	5	45530757	missense	probably damaging	0.97
R6965:Fam184b	UTSW	5	45555135	missense	probably benign
R7229:Fam184b	UTSW	5	45584175	missense	probably damaging	1.00
R7303:Fam184b	UTSW	5	45542226	critical splice donor site	probably null
R7429:Fam184b	UTSW	5	45540888	missense	probably benign
R7522:Fam184b	UTSW	5	45530751	missense	probably damaging	1.00
R7541:Fam184b	UTSW	5	45542232	missense	probably damaging	0.99
R7942:Fam184b	UTSW	5	45584253	missense	probably benign	0.16
R8172:Fam184b	UTSW	5	45584367	missense	possibly damaging	0.86
R9470:Fam184b	UTSW	5	45584512	missense	probably damaging	1.00
R9649:Fam184b	UTSW	5	45639142	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCAACTTTGCCTATTATCCCC -3'
(R):5'- CGCATTCAGACCCTGGAAAATGCC -3'

Sequencing Primer
(F):5'- GTTCTTTCAACTTCTGGGCATAC -3'
(R):5'- TGCTGAACGAGTCCTGATAC -3'

Posted On

2014-01-15