Mutagenetix > Incidental Mutation

Incidental Mutation 'R6060:Fam184b'

483181

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45529705-45639614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45553147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 547 (E547G)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

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

AlphaFold

Q0KK56

Predicted Effect

probably damaging
Transcript: ENSMUST00000016023
AA Change: E547G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: E547G

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: ENSMUST00000199642

Meta Mutation Damage Score

0.0904

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	G	16: 89,169,742		probably null	Het
Adh1	T	C	3: 138,286,783	I220T	probably damaging	Het
Ajap1	G	A	4: 153,432,242	T214I	probably damaging	Het
Ank2	A	G	3: 126,955,952	F476S	probably damaging	Het
Atp6v1g3	A	G	1: 138,273,844	K27E	possibly damaging	Het
B230118H07Rik	T	C	2: 101,610,605	K18E	probably benign	Het
BC034090	A	G	1: 155,241,499	I291T	probably benign	Het
Cnot9	T	A	1: 74,517,126	N27K	probably benign	Het
Cyp2c70	A	T	19: 40,165,413	L244*	probably null	Het
Cyp2d22	T	C	15: 82,375,885	T6A	probably benign	Het
D630045J12Rik	T	C	6: 38,130,864	E1829G	probably damaging	Het
Dnajc4	G	T	19: 6,990,725	S61*	probably null	Het
Dpysl4	A	G	7: 139,089,408	M1V	probably null	Het
Fam149a	T	A	8: 45,358,762		probably benign	Het
Fam47e	T	A	5: 92,579,613	F127I	possibly damaging	Het
Ifi207	G	A	1: 173,730,527	T215I	unknown	Het
Lpxn	T	C	19: 12,833,125	L311P	probably damaging	Het
Lrp1b	A	T	2: 40,750,934	N3499K		Het
Mknk2	A	T	10: 80,671,634	D76E	probably benign	Het
Nectin2	A	T	7: 19,717,775	Y445N	probably damaging	Het
Ngb	A	C	12: 87,100,189	S85A	probably benign	Het
Nrp1	C	A	8: 128,497,938	H727Q	probably damaging	Het
Olfr1466	C	T	19: 13,342,133	A125V	probably benign	Het
Olfr420	C	A	1: 174,159,341	C189*	probably null	Het
Pold3	A	C	7: 100,100,612	Y115*	probably null	Het
Ppp1r12b	C	G	1: 134,955,524	V87L	probably benign	Het
Ppp1r26	A	G	2: 28,451,030	N224S	probably benign	Het
Prl7a1	G	A	13: 27,637,588	P122S	probably damaging	Het
Rc3h2	T	C	2: 37,399,600	H400R	possibly damaging	Het
Rnf32	A	T	5: 29,206,754	I214L	probably benign	Het
Safb2	A	T	17: 56,563,246		probably null	Het
Serpinb6e	A	G	13: 33,841,273	C12R	possibly damaging	Het
Sh2b2	A	T	5: 136,232,355	N2K	possibly damaging	Het
Slc12a4	G	A	8: 105,945,706	A821V	probably damaging	Het
Slc41a1	A	G	1: 131,840,234	M179V	probably benign	Het
Slc9a3	A	G	13: 74,150,885	Y141C	probably damaging	Het
Tenm4	G	A	7: 96,873,711	V1450I	probably damaging	Het
Trmt1l	A	G	1: 151,457,580	N642S	possibly damaging	Het
Ttll13	G	A	7: 80,258,743	R576H	probably damaging	Het
Zar1	T	A	5: 72,580,929	R43S	probably benign	Het
Zfp455	A	G	13: 67,207,193	Y175C	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
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
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'- AGATGGAAACCAGTCCTTCATG -3'
(R):5'- AGCACTGACTAAGATCAGTAGAAC -3'

Sequencing Primer
(F):5'- GATGGAAACCAGTCCTTCATGTTTTC -3'
(R):5'- CTTACAACTTAAGGCAGGTTGC -3'

Posted On

2017-07-14