Mutagenetix > Incidental Mutations

Incidental Mutation 'R6361:Fam170b'

513136

Institutional Source

Beutler Lab

Gene Symbol

Fam170b

Ensembl Gene

ENSMUSG00000078127

Gene Name

family with sequence similarity 170, member B

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6361 (G1)

Quality Score

176.009

Status

Validated

Chromosome

Chromosomal Location

32833962-32836789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32836071 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 288 (Q288K)

Ref Sequence

ENSEMBL: ENSMUSP00000100529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104926]

Predicted Effect

unknown
Transcript: ENSMUST00000104926
AA Change: Q288K

SMART Domains

Protein: ENSMUSP00000100529
Gene: ENSMUSG00000078127
AA Change: Q288K

Domain	Start	End	E-Value	Type
low complexity region	71	96	N/A	INTRINSIC
ZnF_C2H2	202	223	1.81e1	SMART
low complexity region	241	252	N/A	INTRINSIC
SCOP:d1lsha3	280	312	6e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227787

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,972,695	D676V	probably benign	Het
6430531B16Rik	T	A	7: 139,976,672	D134V	possibly damaging	Het
Asap1	C	T	15: 64,349,823		probably null	Het
Cabin1	G	A	10: 75,726,865	A29V	possibly damaging	Het
Cadps	G	A	14: 12,491,778	Q791*	probably null	Het
Cdc14b	T	C	13: 64,216,209		probably null	Het
Cep89	C	T	7: 35,398,047	P33S	probably damaging	Het
Clec18a	A	G	8: 111,081,029		probably benign	Het
Cln5	T	A	14: 103,076,201	D296E	probably benign	Het
Col6a4	A	T	9: 106,066,703	S1191T	probably benign	Het
Crispld1	A	G	1: 17,762,231	I480M	probably damaging	Het
Dhrs7	A	C	12: 72,664,659	L32V	probably damaging	Het
Dscam	T	C	16: 96,622,811	T1645A	probably benign	Het
Eif2b3	A	G	4: 117,028,425	T55A	possibly damaging	Het
Ercc6	T	C	14: 32,517,110	Y52H	probably benign	Het
Flt4	A	G	11: 49,630,578	T442A	probably benign	Het
Gm19402	A	T	10: 77,690,061		probably benign	Het
Gm4841	A	G	18: 60,270,760	I87T	probably damaging	Het
Hspb7	A	G	4: 141,422,549	E82G	possibly damaging	Het
Itgb3	A	G	11: 104,665,582	K750E	possibly damaging	Het
Itsn2	A	G	12: 4,629,655	M155V	probably benign	Het
March8	A	T	6: 116,402,101	D332V	probably null	Het
Mst1r	A	G	9: 107,915,853	M1042V	probably benign	Het
Muc4	T	C	16: 32,767,351	F2756L	probably benign	Het
Myl6b	T	A	10: 128,497,209	K55*	probably null	Het
Olfr1230	A	T	2: 89,296,646	I208N	probably damaging	Het
Olfr1301	G	T	2: 111,754,595	L115F	probably damaging	Het
Olfr150	A	C	9: 39,737,672	N286H	probably damaging	Het
Olfr348	A	G	2: 36,786,780	N85S	probably damaging	Het
Olfr830	T	C	9: 18,875,731	Y132H	probably damaging	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Pkd2	C	T	5: 104,486,680	R526*	probably null	Het
Polr2a	C	A	11: 69,743,337	A756S	probably damaging	Het
Prkd2	T	C	7: 16,847,654	S145P	probably damaging	Het
Rhbdf1	T	C	11: 32,212,915	N451D	possibly damaging	Het
Rundc3a	G	A	11: 102,400,795	R358Q	probably damaging	Het
Tbc1d4	T	C	14: 101,507,174	K339E	probably damaging	Het
Usp37	A	G	1: 74,453,893	I723T	probably benign	Het
Vwa2	A	T	19: 56,901,526		probably null	Het
Zdbf2	A	C	1: 63,303,321	R286S	possibly damaging	Het
Zfp422	G	A	6: 116,626,820	H73Y	probably damaging	Het
Zfp868	T	C	8: 69,611,913	H257R	probably damaging	Het
Zzef1	A	G	11: 72,884,349	S1723G	possibly damaging	Het

Other mutations in Fam170b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03093:Fam170b	APN	14	32835525	missense	probably damaging	1.00
R0279:Fam170b	UTSW	14	32834068	start gained	probably benign
R0594:Fam170b	UTSW	14	32836314	missense	unknown
R1496:Fam170b	UTSW	14	32835631	missense	probably damaging	1.00
R1675:Fam170b	UTSW	14	32835402	nonsense	probably null
R1766:Fam170b	UTSW	14	32835886	missense	possibly damaging	0.94
R2240:Fam170b	UTSW	14	32835868	missense	probably damaging	1.00
R6828:Fam170b	UTSW	14	32835958	missense	probably damaging	1.00
R7487:Fam170b	UTSW	14	32835819	missense	probably damaging	1.00
R7575:Fam170b	UTSW	14	32836198	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTGCCAAATATTCTTCGAGG -3'
(R):5'- GCAGCAATTCAAAATGCTGGAG -3'

Sequencing Primer
(F):5'- CCAAATATTCTTCGAGGAGATGCTGG -3'
(R):5'- CCTGTTGCTGCAGTGGC -3'

Posted On

2018-04-27