Mutagenetix > Incidental Mutation

Incidental Mutation 'R7303:Fam184b'

567088

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

045364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45529705-45639614 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 45542226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

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

AlphaFold

Q0KK56

Predicted Effect

probably null
Transcript: ENSMUST00000016023

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	G	C	8: 84,161,233	G71A	probably benign	Het
Abca3	T	G	17: 24,398,521	L1064R	possibly damaging	Het
Abca7	A	T	10: 80,014,988	D2051V	probably benign	Het
Abcb5	T	A	12: 118,911,560	I626F	probably damaging	Het
Abcg5	A	G	17: 84,670,346	S333P	probably damaging	Het
Abl2	T	C	1: 156,641,250	S695P	probably benign	Het
Aen	C	T	7: 78,902,456	P55S	possibly damaging	Het
Afg3l1	G	T	8: 123,501,269	A598S	probably damaging	Het
Aldh16a1	A	T	7: 45,147,904	L160Q	probably damaging	Het
Ang	A	T	14: 51,101,516	H38L	probably benign	Het
Ankar	A	T	1: 72,659,033	I954N	probably benign	Het
Aox2	A	T	1: 58,334,765	K862*	probably null	Het
Cad	T	C	5: 31,060,213		probably null	Het
Cc2d2b	A	T	19: 40,808,994	Y740F	unknown	Het
Ccdc182	T	C	11: 88,294,216	Y41H	probably benign	Het
Chd9	A	G	8: 91,051,904	R2848G	unknown	Het
Chrna6	A	T	8: 27,406,991	L286*	probably null	Het
Cracr2b	A	G	7: 141,463,202		probably benign	Het
Fam208a	A	G	14: 27,471,852	E1003G	probably damaging	Het
Flnc	T	C	6: 29,460,850	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,254,680	D76G	probably damaging	Het
Fxyd1	T	A	7: 31,054,318	M17L	probably benign	Het
Golim4	G	A	3: 75,878,053	S677L	probably damaging	Het
Gpr149	A	G	3: 62,595,070	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,321,336	S132R	probably benign	Het
H2-Q7	A	G	17: 35,440,061	I163V	probably benign	Het
Herc1	A	T	9: 66,450,816	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,512,728	K44E	possibly damaging	Het
Itgad	A	G	7: 128,190,179	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,614,112	F16L	unknown	Het
Klhl23	T	C	2: 69,824,701	I305T	probably benign	Het
Lrguk	A	T	6: 34,029,476	N7I	probably benign	Het
Lrp5	A	G	19: 3,591,774	L1396P	probably damaging	Het
Mapkapk5	T	C	5: 121,540,574	E13G	probably benign	Het
Mark3	T	C	12: 111,655,536	V704A	probably damaging	Het
Mast2	A	G	4: 116,308,311	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,887,946	D516G	probably damaging	Het
Mon2	A	T	10: 123,038,459		probably null	Het
Mrc2	T	A	11: 105,325,803	N139K	probably damaging	Het
Myh14	C	T	7: 44,611,701	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,618,740	L271Q	probably damaging	Het
Odf3l2	G	A	10: 79,642,691	P80S	probably benign	Het
Olfr1087	A	G	2: 86,690,822	V51A	probably benign	Het
Olfr61	T	C	7: 140,638,354	S218P	probably damaging	Het
Oog2	A	T	4: 144,195,342	H274L	probably benign	Het
Oosp1	A	C	19: 11,668,410	S121R	probably benign	Het
Pepd	T	C	7: 35,021,772		probably null	Het
Pik3c2a	A	C	7: 116,405,943	S363R	probably benign	Het
Polr2b	T	C	5: 77,321,021	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,414,675	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,682,097	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,375,958	A78T	probably benign	Het
Slc9a5	T	A	8: 105,356,713	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,490	I944F	possibly damaging	Het
Syne1	T	A	10: 5,256,805	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,628,133	Y208C	probably benign	Het
Tm9sf3	G	A	19: 41,238,759	S291F	probably damaging	Het
Tra2a	G	A	6: 49,250,987	T69I	unknown	Het
Ube2q1	T	A	3: 89,776,591	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,817,965	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,210,602	S249P	probably damaging	Het
Wdr91	G	A	6: 34,884,323	S648L	probably benign	Het
Zfp51	T	A	17: 21,463,796	N224K	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
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
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
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'- GACTCATGTTTGCAACACATGG -3'
(R):5'- GCAGTTTCATGCCTCAGTGC -3'

Sequencing Primer
(F):5'- TGACCCTATGAGGTAGAGATCATTAG -3'
(R):5'- ATGCCTCAGTGCCTTCTGC -3'

Posted On

2019-06-26