Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Fam184b'

283904

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

45687047-45796843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45695062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 727 (D727E)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

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

AlphaFold

Q0KK56

Predicted Effect

probably benign
Transcript: ENSMUST00000016023
AA Change: D727E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: D727E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199190

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Fam184b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Fam184b	APN	5	45,697,091 (GRCm39)	missense	probably benign	0.17
IGL00781:Fam184b	APN	5	45,712,534 (GRCm39)	splice site	probably null
IGL01636:Fam184b	APN	5	45,741,637 (GRCm39)	missense	probably benign	0.00
IGL02008:Fam184b	APN	5	45,690,165 (GRCm39)	missense	possibly damaging	0.75
IGL02123:Fam184b	APN	5	45,796,493 (GRCm39)	missense	possibly damaging	0.92
IGL02177:Fam184b	APN	5	45,690,157 (GRCm39)	nonsense	probably null
IGL02478:Fam184b	APN	5	45,695,039 (GRCm39)	missense	probably damaging	0.99
IGL03368:Fam184b	APN	5	45,689,166 (GRCm39)	missense	possibly damaging	0.91
R0003:Fam184b	UTSW	5	45,712,536 (GRCm39)	splice site	probably benign
R0129:Fam184b	UTSW	5	45,690,120 (GRCm39)	missense	probably damaging	1.00
R0420:Fam184b	UTSW	5	45,741,854 (GRCm39)	missense	probably damaging	1.00
R0647:Fam184b	UTSW	5	45,741,932 (GRCm39)	missense	probably benign
R1215:Fam184b	UTSW	5	45,741,520 (GRCm39)	missense	probably damaging	1.00
R1374:Fam184b	UTSW	5	45,712,485 (GRCm39)	missense	probably benign
R1466:Fam184b	UTSW	5	45,737,851 (GRCm39)	splice site	probably benign
R1773:Fam184b	UTSW	5	45,741,676 (GRCm39)	missense	possibly damaging	0.60
R1865:Fam184b	UTSW	5	45,689,231 (GRCm39)	missense	possibly damaging	0.91
R3615:Fam184b	UTSW	5	45,740,157 (GRCm39)	missense	possibly damaging	0.56
R3616:Fam184b	UTSW	5	45,740,157 (GRCm39)	missense	possibly damaging	0.56
R4180:Fam184b	UTSW	5	45,697,106 (GRCm39)	missense	probably benign	0.00
R4375:Fam184b	UTSW	5	45,699,685 (GRCm39)	missense	probably benign
R4674:Fam184b	UTSW	5	45,740,230 (GRCm39)	nonsense	probably null
R4942:Fam184b	UTSW	5	45,730,649 (GRCm39)	missense	probably damaging	0.97
R5021:Fam184b	UTSW	5	45,730,604 (GRCm39)	missense	probably benign	0.01
R5450:Fam184b	UTSW	5	45,697,143 (GRCm39)	missense	probably benign
R5731:Fam184b	UTSW	5	45,710,471 (GRCm39)	missense	probably benign	0.00
R5858:Fam184b	UTSW	5	45,796,461 (GRCm39)	missense	probably damaging	0.99
R6032:Fam184b	UTSW	5	45,740,238 (GRCm39)	missense	probably benign	0.01
R6032:Fam184b	UTSW	5	45,740,238 (GRCm39)	missense	probably benign	0.01
R6060:Fam184b	UTSW	5	45,710,489 (GRCm39)	missense	probably damaging	0.99
R6088:Fam184b	UTSW	5	45,741,354 (GRCm39)	missense	probably damaging	1.00
R6416:Fam184b	UTSW	5	45,694,995 (GRCm39)	missense	probably benign	0.04
R6932:Fam184b	UTSW	5	45,690,243 (GRCm39)	splice site	probably null
R6956:Fam184b	UTSW	5	45,688,099 (GRCm39)	missense	probably damaging	0.97
R6965:Fam184b	UTSW	5	45,712,477 (GRCm39)	missense	probably benign
R7229:Fam184b	UTSW	5	45,741,517 (GRCm39)	missense	probably damaging	1.00
R7303:Fam184b	UTSW	5	45,699,568 (GRCm39)	critical splice donor site	probably null
R7429:Fam184b	UTSW	5	45,698,230 (GRCm39)	missense	probably benign
R7522:Fam184b	UTSW	5	45,688,093 (GRCm39)	missense	probably damaging	1.00
R7541:Fam184b	UTSW	5	45,699,574 (GRCm39)	missense	probably damaging	0.99
R7942:Fam184b	UTSW	5	45,741,595 (GRCm39)	missense	probably benign	0.16
R8172:Fam184b	UTSW	5	45,741,709 (GRCm39)	missense	possibly damaging	0.86
R9470:Fam184b	UTSW	5	45,741,854 (GRCm39)	missense	probably damaging	1.00
R9649:Fam184b	UTSW	5	45,796,484 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16