Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Fam178b'

97221

Institutional Source

Beutler Lab

Gene Symbol

Fam178b

Ensembl Gene

ENSMUSG00000046337

Gene Name

family with sequence similarity 178, member B

Synonyms

1700024G10Rik, LOC381337

MMRRC Submission

039189-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36562692-36683183 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36578588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 82 (C82*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170295]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000170295
AA Change: C413*

SMART Domains

Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: C413*

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
Pfam:FAM178	86	385	1e-130	PFAM
low complexity region	395	410	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193763

Predicted Effect

probably null
Transcript: ENSMUST00000194025
AA Change: C82*

Predicted Effect

unknown
Transcript: ENSMUST00000194839
AA Change: S137T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195729

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	T	10: 3,120,180		noncoding transcript	Het
Abi3bp	T	C	16: 56,686,429		probably benign	Het
Acacb	C	T	5: 114,210,956	P1028S	probably damaging	Het
Acad10	A	G	5: 121,630,751	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,438,428	Y705N	probably benign	Het
Adm	A	G	7: 110,628,294	I6V	probably benign	Het
Agps	T	G	2: 75,861,925		probably benign	Het
Atr	C	T	9: 95,867,636	Q501*	probably null	Het
Cacna2d3	A	G	14: 29,064,321		probably benign	Het
Ccnt1	G	A	15: 98,544,338	R350W	probably damaging	Het
Cfap74	G	A	4: 155,433,996	E564K	probably benign	Het
Clip1	T	C	5: 123,579,491	E1250G	probably damaging	Het
Cryz	A	C	3: 154,621,603		probably benign	Het
Dnah1	C	A	14: 31,307,867	V494F	probably benign	Het
Dpep3	G	T	8: 105,978,829	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,129,182	A418V	probably damaging	Het
Ehf	T	A	2: 103,267,009	N231I	probably damaging	Het
Eif4g3	T	C	4: 138,091,775		probably null	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gm1647	C	T	3: 69,156,872	Q31*	probably null	Het
Got1	T	A	19: 43,502,974	K346*	probably null	Het
Grid2ip	G	A	5: 143,382,914	G656D	possibly damaging	Het
Grm2	A	G	9: 106,647,927	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,384,681	I381T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
March11	T	C	15: 26,409,295	L360P	probably damaging	Het
Mettl17	T	C	14: 51,889,598	V281A	probably benign	Het
Micu2	A	T	14: 57,954,200	D131E	probably benign	Het
Mug1	G	C	6: 121,870,645	V661L	probably benign	Het
Myo18b	A	T	5: 112,803,279	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,437,454	V51I	probably benign	Het
Nlgn1	A	C	3: 25,433,874	S766A	probably benign	Het
Olfr462	T	A	11: 87,889,408	M163L	probably benign	Het
Otog	T	C	7: 46,300,601		probably benign	Het
Pax2	T	C	19: 44,757,424	S11P	probably damaging	Het
Pck2	A	G	14: 55,545,366	D392G	probably benign	Het
Plxnd1	A	T	6: 115,967,005		probably null	Het
Prkdc	A	G	16: 15,783,079	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,126,002	L149P	probably damaging	Het
Purg	A	T	8: 33,386,745	H137L	probably benign	Het
Slc38a8	A	T	8: 119,496,133	L150Q	probably damaging	Het
Tifab	T	A	13: 56,176,212	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,162,985	H353R	probably benign	Het
Upk2	A	G	9: 44,453,789		probably null	Het
Zdhhc25	G	A	15: 88,600,620	V53I	probably benign	Het
Zfp738	T	A	13: 67,670,243		probably null	Het
Zfp810	C	T	9: 22,279,085	E176K	probably benign	Het
Zfp846	T	A	9: 20,593,263	W140R	possibly damaging	Het

Other mutations in Fam178b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Fam178b	APN	1	36564403	missense	possibly damaging	0.90
IGL01128:Fam178b	APN	1	36644354	missense	probably damaging	1.00
IGL01859:Fam178b	APN	1	36659365	missense	probably damaging	1.00
R0398:Fam178b	UTSW	1	36632406	splice site	probably benign
R1613:Fam178b	UTSW	1	36600192	missense	probably benign	0.01
R1623:Fam178b	UTSW	1	36644324	missense	probably damaging	1.00
R2276:Fam178b	UTSW	1	36632458	missense	probably damaging	1.00
R3706:Fam178b	UTSW	1	36608448	missense	probably damaging	1.00
R4535:Fam178b	UTSW	1	36600525	missense	probably benign	0.43
R4784:Fam178b	UTSW	1	36632415	splice site	probably null
R5372:Fam178b	UTSW	1	36564848	missense	possibly damaging	0.95
R5431:Fam178b	UTSW	1	36632485	missense	probably damaging	1.00
R6808:Fam178b	UTSW	1	36600135	missense	probably damaging	1.00
R7117:Fam178b	UTSW	1	36600467	missense	probably benign	0.04
R7308:Fam178b	UTSW	1	36659407	missense	probably benign
R7573:Fam178b	UTSW	1	36632452	missense	probably damaging	1.00
R7678:Fam178b	UTSW	1	36564451	missense	probably damaging	1.00
R9786:Fam178b	UTSW	1	36564436	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGAAGAATACTGAGCGTCTCCTCC -3'
(R):5'- AGGTGGATTCTGACCTGGAAGCTG -3'

Sequencing Primer
(F):5'- TCCTCCTCATACAGAGGGC -3'
(R):5'- GAAGCTGGGGCGCTGAG -3'

Posted On

2014-01-05