Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Fam184b'

36972

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

038622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0420 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

45687047-45796843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45741854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

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

AlphaFold

Q0KK56

Predicted Effect

probably damaging
Transcript: ENSMUST00000016023
AA Change: S126P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: S126P

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

Meta Mutation Damage Score

0.1042

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,991,050 (GRCm39)	V870A	probably benign	Het
Adam6b	A	T	12: 113,453,614 (GRCm39)	M144L	probably benign	Het
Adrb2	T	A	18: 62,312,610 (GRCm39)	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,740,674 (GRCm39)	H99L	probably damaging	Het
Ap4e1	C	T	2: 126,891,280 (GRCm39)	T17M	probably damaging	Het
Arnt	T	A	3: 95,377,705 (GRCm39)		probably benign	Het
Atp1a3	C	T	7: 24,680,052 (GRCm39)	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,729,826 (GRCm39)		probably benign	Het
Atp8a2	G	T	14: 60,011,193 (GRCm39)	T971K	probably damaging	Het
BC048562	A	T	9: 108,323,165 (GRCm39)	T167S	probably benign	Het
Brd9	A	G	13: 74,103,592 (GRCm39)	M491V	probably benign	Het
Btnl10	A	T	11: 58,814,277 (GRCm39)	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800 (GRCm38)	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,557,581 (GRCm39)		probably benign	Het
Ccm2l	A	T	2: 152,912,782 (GRCm39)	D107V	probably null	Het
Cep192	A	G	18: 67,946,964 (GRCm39)	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,984,238 (GRCm39)	N242T	probably benign	Het
Dnah17	A	G	11: 117,930,765 (GRCm39)	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,101,836 (GRCm39)	I231L	probably benign	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eya4	T	C	10: 23,031,861 (GRCm39)	N254S	possibly damaging	Het
Fancd2	T	C	6: 113,513,940 (GRCm39)	L108P	probably damaging	Het
Fgf12	A	T	16: 27,981,281 (GRCm39)	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,357,654 (GRCm39)	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,412,047 (GRCm39)		probably benign	Het
Gm6434	T	A	7: 25,581,786 (GRCm39)		noncoding transcript	Het
Grik4	A	T	9: 42,533,392 (GRCm39)	L376*	probably null	Het
Gvin3	T	A	7: 106,203,090 (GRCm39)	L51F	probably damaging	Het
Gzf1	A	G	2: 148,525,753 (GRCm39)	T75A	probably benign	Het
Hcn1	T	C	13: 118,111,911 (GRCm39)	I625T	unknown	Het
Hhat	C	T	1: 192,235,242 (GRCm39)		probably null	Het
Ifit1bl1	T	C	19: 34,571,914 (GRCm39)	E181G	probably damaging	Het
Kif21a	T	C	15: 90,852,257 (GRCm39)		probably benign	Het
Lrrc45	A	C	11: 120,606,045 (GRCm39)	S118R	probably damaging	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Ms4a5	A	G	19: 11,261,018 (GRCm39)	L47S	probably damaging	Het
Mynn	A	T	3: 30,661,608 (GRCm39)	N230I	probably benign	Het
Nck2	T	C	1: 43,593,278 (GRCm39)	S162P	probably damaging	Het
Nfat5	T	C	8: 108,094,093 (GRCm39)	F259S	probably damaging	Het
Obox1	T	G	7: 15,290,178 (GRCm39)	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,470,772 (GRCm39)		probably null	Het
Pgbd1	A	T	13: 21,607,336 (GRCm39)	V286E	possibly damaging	Het
Phlpp2	T	C	8: 110,666,567 (GRCm39)	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,131,440 (GRCm39)	A318T	probably damaging	Het
Prex1	T	A	2: 166,431,491 (GRCm39)	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,742,595 (GRCm39)		probably null	Het
Rbbp5	T	G	1: 132,421,582 (GRCm39)	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,415,518 (GRCm39)	V173A	probably benign	Het
Sgsm1	A	T	5: 113,411,625 (GRCm39)	N700K	probably benign	Het
Slco1a8	T	G	6: 141,931,203 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,175 (GRCm39)	H188L	probably damaging	Het
Spmip11	A	G	15: 98,468,975 (GRCm39)	S17G	probably benign	Het
Supt5	T	A	7: 28,016,754 (GRCm39)		probably benign	Het
Synpo	A	G	18: 60,735,490 (GRCm39)	S819P	probably damaging	Het
Tenm2	A	G	11: 36,097,951 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,522,973 (GRCm39)	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,553,193 (GRCm39)	N83S	probably benign	Het
Tle6	T	C	10: 81,431,145 (GRCm39)		probably benign	Het
Tm2d2	T	G	8: 25,508,130 (GRCm39)	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,941,710 (GRCm39)	Q463H	probably benign	Het
Tmf1	A	G	6: 97,153,102 (GRCm39)	S324P	probably damaging	Het
Tnc	T	C	4: 63,918,396 (GRCm39)	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,489,746 (GRCm39)	C393S	probably benign	Het
Usp42	G	A	5: 143,700,616 (GRCm39)	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,389,183 (GRCm39)	M499R	probably benign	Het
Vps54	T	A	11: 21,261,071 (GRCm39)		probably benign	Het
Wdr6	C	T	9: 108,450,300 (GRCm39)	R1076H	probably benign	Het
Wdr72	T	A	9: 74,118,039 (GRCm39)	M917K	possibly damaging	Het
Wee2	T	C	6: 40,433,929 (GRCm39)	V281A	probably benign	Het
Zc3h6	A	G	2: 128,856,747 (GRCm39)	D609G	probably benign	Het
Zfp345	G	A	2: 150,315,163 (GRCm39)	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,685,236 (GRCm39)	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
IGL02192:Fam184b	APN	5	45,695,062 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGCCTGACGGATGGCCTCATTTTC -3'
(R):5'- TGGCACCAACTCCTTGCCTTAACTG -3'

Sequencing Primer
(F):5'- AGCAGGACCTGGTGCATTTC -3'
(R):5'- GCAGGTTATTTATGCCCTCAATAC -3'

Posted On

2013-05-09