Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Fam184b'

57252

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

038832-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45529705-45639614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45584590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 100 (T100A)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

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

AlphaFold

Q0KK56

Predicted Effect

probably benign
Transcript: ENSMUST00000016023
AA Change: T100A

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

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: T100A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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
4930452B06Rik	T	A	14: 8,536,655 (GRCm38)	D184V	possibly damaging	Het
Adamts2	C	A	11: 50,603,438 (GRCm38)	T113K	probably damaging	Het
Adgre1	T	A	17: 57,411,003 (GRCm38)	N338K	probably damaging	Het
Aggf1	A	T	13: 95,371,656 (GRCm38)		probably null	Het
Apc2	A	T	10: 80,304,928 (GRCm38)	I206F	probably damaging	Het
Carmil3	T	C	14: 55,502,435 (GRCm38)		probably null	Het
Ccdc110	A	C	8: 45,943,388 (GRCm38)	E772A	probably damaging	Het
Cdh23	A	G	10: 60,307,902 (GRCm38)	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,323,374 (GRCm38)	Y2207*	probably null	Het
Chd4	T	A	6: 125,109,123 (GRCm38)	N908K	probably damaging	Het
Chst9	A	G	18: 15,452,669 (GRCm38)	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,820,424 (GRCm38)	N261I	probably benign	Het
Dlgap2	A	T	8: 14,727,591 (GRCm38)	S279C	possibly damaging	Het
Dock4	G	A	12: 40,710,884 (GRCm38)	E524K	probably damaging	Het
Fabp12	T	A	3: 10,246,036 (GRCm38)	N122I	possibly damaging	Het
Fbxl5	T	C	5: 43,768,069 (GRCm38)	D176G	probably damaging	Het
Fcho1	C	T	8: 71,712,560 (GRCm38)	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477 (GRCm38)	N95S	possibly damaging	Het
Frem3	A	G	8: 80,615,185 (GRCm38)	E1369G	probably damaging	Het
Frmpd4	C	T	X: 167,489,010 (GRCm38)	E483K	probably damaging	Het
Gbp11	T	C	5: 105,330,964 (GRCm38)	K203E	possibly damaging	Het
Gm10334	A	T	6: 41,443,341 (GRCm38)	F150L	probably benign	Het
Hs3st6	C	T	17: 24,758,160 (GRCm38)	R205C	probably damaging	Het
Ifitm10	C	T	7: 142,356,035 (GRCm38)	S179N	probably damaging	Het
Irx2	A	C	13: 72,630,680 (GRCm38)	N121T	probably damaging	Het
Itih1	A	T	14: 30,935,863 (GRCm38)	V417E	probably damaging	Het
Itpr1	A	C	6: 108,383,698 (GRCm38)	E695A	probably damaging	Het
Kif1c	T	A	11: 70,726,141 (GRCm38)	I755K	probably damaging	Het
Lamb3	A	G	1: 193,330,796 (GRCm38)	E443G	probably damaging	Het
Lrp1	G	C	10: 127,571,477 (GRCm38)	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,480,607 (GRCm38)	I273K	possibly damaging	Het
Ly9	T	C	1: 171,599,808 (GRCm38)	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,674,405 (GRCm38)	V295A	probably benign	Het
Nlrp5	T	A	7: 23,417,707 (GRCm38)	D269E	probably damaging	Het
Olfr1294	A	G	2: 111,537,359 (GRCm38)	V310A	probably benign	Het
Olfr398	G	A	11: 73,983,771 (GRCm38)	A279V	probably damaging	Het
Olfr469	T	A	7: 107,823,011 (GRCm38)	I153F	probably benign	Het
Olfr654	T	G	7: 104,588,115 (GRCm38)	F104V	probably damaging	Het
Olfr720	T	G	14: 14,175,858 (GRCm38)	T75P	probably benign	Het
Otud3	A	G	4: 138,913,637 (GRCm38)	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,447,773 (GRCm38)	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,513,860 (GRCm38)	V14A	probably damaging	Het
Rbfox1	A	T	16: 7,224,384 (GRCm38)	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,156,928 (GRCm38)	D665G	probably benign	Het
Rc3h2	C	T	2: 37,409,530 (GRCm38)	V163M	probably damaging	Het
Sash1	T	A	10: 8,729,552 (GRCm38)	R1025W	probably damaging	Het
Sgpl1	A	G	10: 61,113,488 (GRCm38)	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,587,916 (GRCm38)	D615N	probably benign	Het
Smap1	A	G	1: 23,853,478 (GRCm38)	I135T	probably damaging	Het
Snapc3	A	G	4: 83,450,229 (GRCm38)	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,589,448 (GRCm38)	R6C	probably damaging	Het
Syne2	C	T	12: 75,888,203 (GRCm38)	P153L	probably benign	Het
Tiprl	A	G	1: 165,222,523 (GRCm38)		probably null	Het
Tmem94	A	G	11: 115,796,795 (GRCm38)	N1160S	probably damaging	Het
Trim65	G	A	11: 116,128,210 (GRCm38)	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,169,275 (GRCm38)	I241N	probably damaging	Het
Txndc16	T	A	14: 45,165,361 (GRCm38)	R101*	probably null	Het
Ugt2b38	A	G	5: 87,423,469 (GRCm38)	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,549 (GRCm38)	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,926,184 (GRCm38)	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,275,625 (GRCm38)	I218F	probably damaging	Het
Wdfy4	A	G	14: 33,109,699 (GRCm38)	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,783,875 (GRCm38)	K31T	possibly damaging	Het

Other mutations in Fam184b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Fam184b	APN	5	45,539,749 (GRCm38)	missense	probably benign	0.17
IGL00781:Fam184b	APN	5	45,555,192 (GRCm38)	splice site	probably null
IGL01636:Fam184b	APN	5	45,584,295 (GRCm38)	missense	probably benign	0.00
IGL02008:Fam184b	APN	5	45,532,823 (GRCm38)	missense	possibly damaging	0.75
IGL02123:Fam184b	APN	5	45,639,151 (GRCm38)	missense	possibly damaging	0.92
IGL02177:Fam184b	APN	5	45,532,815 (GRCm38)	nonsense	probably null
IGL02192:Fam184b	APN	5	45,537,720 (GRCm38)	missense	probably benign	0.00
IGL02478:Fam184b	APN	5	45,537,697 (GRCm38)	missense	probably damaging	0.99
IGL03368:Fam184b	APN	5	45,531,824 (GRCm38)	missense	possibly damaging	0.91
R0003:Fam184b	UTSW	5	45,555,194 (GRCm38)	splice site	probably benign
R0129:Fam184b	UTSW	5	45,532,778 (GRCm38)	missense	probably damaging	1.00
R0420:Fam184b	UTSW	5	45,584,512 (GRCm38)	missense	probably damaging	1.00
R1215:Fam184b	UTSW	5	45,584,178 (GRCm38)	missense	probably damaging	1.00
R1374:Fam184b	UTSW	5	45,555,143 (GRCm38)	missense	probably benign
R1466:Fam184b	UTSW	5	45,580,509 (GRCm38)	splice site	probably benign
R1773:Fam184b	UTSW	5	45,584,334 (GRCm38)	missense	possibly damaging	0.60
R1865:Fam184b	UTSW	5	45,531,889 (GRCm38)	missense	possibly damaging	0.91
R3615:Fam184b	UTSW	5	45,582,815 (GRCm38)	missense	possibly damaging	0.56
R3616:Fam184b	UTSW	5	45,582,815 (GRCm38)	missense	possibly damaging	0.56
R4180:Fam184b	UTSW	5	45,539,764 (GRCm38)	missense	probably benign	0.00
R4375:Fam184b	UTSW	5	45,542,343 (GRCm38)	missense	probably benign
R4674:Fam184b	UTSW	5	45,582,888 (GRCm38)	nonsense	probably null
R4942:Fam184b	UTSW	5	45,573,307 (GRCm38)	missense	probably damaging	0.97
R5021:Fam184b	UTSW	5	45,573,262 (GRCm38)	missense	probably benign	0.01
R5450:Fam184b	UTSW	5	45,539,801 (GRCm38)	missense	probably benign
R5731:Fam184b	UTSW	5	45,553,129 (GRCm38)	missense	probably benign	0.00
R5858:Fam184b	UTSW	5	45,639,119 (GRCm38)	missense	probably damaging	0.99
R6032:Fam184b	UTSW	5	45,582,896 (GRCm38)	missense	probably benign	0.01
R6032:Fam184b	UTSW	5	45,582,896 (GRCm38)	missense	probably benign	0.01
R6060:Fam184b	UTSW	5	45,553,147 (GRCm38)	missense	probably damaging	0.99
R6088:Fam184b	UTSW	5	45,584,012 (GRCm38)	missense	probably damaging	1.00
R6416:Fam184b	UTSW	5	45,537,653 (GRCm38)	missense	probably benign	0.04
R6932:Fam184b	UTSW	5	45,532,901 (GRCm38)	splice site	probably null
R6956:Fam184b	UTSW	5	45,530,757 (GRCm38)	missense	probably damaging	0.97
R6965:Fam184b	UTSW	5	45,555,135 (GRCm38)	missense	probably benign
R7229:Fam184b	UTSW	5	45,584,175 (GRCm38)	missense	probably damaging	1.00
R7303:Fam184b	UTSW	5	45,542,226 (GRCm38)	critical splice donor site	probably null
R7429:Fam184b	UTSW	5	45,540,888 (GRCm38)	missense	probably benign
R7522:Fam184b	UTSW	5	45,530,751 (GRCm38)	missense	probably damaging	1.00
R7541:Fam184b	UTSW	5	45,542,232 (GRCm38)	missense	probably damaging	0.99
R7942:Fam184b	UTSW	5	45,584,253 (GRCm38)	missense	probably benign	0.16
R8172:Fam184b	UTSW	5	45,584,367 (GRCm38)	missense	possibly damaging	0.86
R9470:Fam184b	UTSW	5	45,584,512 (GRCm38)	missense	probably damaging	1.00
R9649:Fam184b	UTSW	5	45,639,142 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCATCTCCTTGGAAAGTATCAGGAC -3'
(R):5'- TCAGGCACAGCACATGGCAAAG -3'

Sequencing Primer
(F):5'- AGTATCAGGACTCGTTCAGC -3'
(R):5'- TGAAGCATCTCTGGTCACAG -3'

Posted On

2013-07-11