Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Fam184b'

429264

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

043015-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45529705-45639614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45539801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 674 (V674I)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

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

AlphaFold

Q0KK56

Predicted Effect

probably benign
Transcript: ENSMUST00000016023
AA Change: V674I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: V674I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198680

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
AF067063	A	T	13: 119,828,363	V99E	probably damaging	Het
Arhgef4	T	G	1: 34,807,324		probably benign	Het
Atg14	T	C	14: 47,551,464	N144S	probably benign	Het
Cacna1h	A	T	17: 25,383,186	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,446,068	H138L	possibly damaging	Het
Ccdc129	T	A	6: 55,968,811		probably null	Het
Cd200r2	T	A	16: 44,909,571	D159E	probably benign	Het
Cd79a	G	T	7: 24,899,262	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,978,208	H38R	possibly damaging	Het
Cers1	T	C	8: 70,318,297	L119P	probably damaging	Het
Ces1f	C	A	8: 93,265,795	V343L	probably benign	Het
Ces3a	G	A	8: 105,057,918	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,284,252	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,339,876	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,528,886	T523A	probably benign	Het
Ddx31	T	C	2: 28,886,969	S567P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dsg1b	A	C	18: 20,409,064	H876P	probably damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Eno4	T	C	19: 58,960,247	F393S	possibly damaging	Het
Eral1	C	T	11: 78,078,357	D106N	probably benign	Het
Esp18	G	T	17: 39,408,179	R23M	probably benign	Het
Fbxw13	A	C	9: 109,184,157	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,107,125	V130A	probably damaging	Het
Hc	T	C	2: 35,013,038	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,330,506	S6T	unknown	Het
Ikzf3	C	T	11: 98,467,086	R475H	probably damaging	Het
Kcmf1	A	T	6: 72,842,930	L311*	probably null	Het
Kmt2d	C	A	15: 98,855,086	E184D	probably damaging	Het
Lrguk	A	T	6: 34,071,061	I314F	probably damaging	Het
Maml2	A	C	9: 13,706,467	S370R	probably damaging	Het
Mroh1	C	A	15: 76,432,347		probably benign	Het
Mx1	A	T	16: 97,454,147	Y235*	probably null	Het
Olfr1269	A	G	2: 90,118,669	*310Q	probably null	Het
Pamr1	T	G	2: 102,639,317	Y403D	probably damaging	Het
Panx2	A	G	15: 89,068,959	E551G	possibly damaging	Het
Patl2	A	G	2: 122,125,281	V258A	probably benign	Het
Ppm1m	A	G	9: 106,196,842	F255L	probably benign	Het
Prpf40a	G	T	2: 53,156,926	T266N	possibly damaging	Het
Psg18	T	A	7: 18,353,425	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,635,148		noncoding transcript	Het
Rps6kb1	A	T	11: 86,532,837	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Sardh	G	T	2: 27,239,698	T245K	possibly damaging	Het
Shprh	T	G	10: 11,212,330	I1619S	possibly damaging	Het
Skint1	G	A	4: 112,025,532	V258I	probably benign	Het
Slc27a5	T	C	7: 12,994,942	D331G	probably benign	Het
Slc29a2	A	G	19: 5,029,275	I309V	probably benign	Het
Slc30a5	C	T	13: 100,821,172	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,552,656	A531D	probably damaging	Het
Slc6a16	C	T	7: 45,261,248	T399I	probably benign	Het
Slitrk6	T	A	14: 110,750,097	H726L	probably benign	Het
Snx2	A	G	18: 53,210,712	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,373,219	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Tmem8b	G	A	4: 43,673,992	V208I	probably benign	Het
Vmn1r47	T	C	6: 90,022,213	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,756,449	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,930,684	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,126,590	T504A	probably benign	Het
Wdr75	C	A	1: 45,812,164	A300E	probably benign	Het
Yars	A	G	4: 129,197,246	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,447,205	F35L	probably damaging	Het
Zfp366	A	G	13: 99,229,585	Y418C	probably damaging	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
R1215:Fam184b	UTSW	5	45584178	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGCTCCAACCAATGATG -3'
(R):5'- TGGAACGCCTCTAGAAAGGTC -3'

Sequencing Primer
(F):5'- AGGCAGGAATCAATGGAAGCTG -3'
(R):5'- CGCCTCTAGAAAGGTCAGGAAG -3'

Posted On

2016-09-06