Mutagenetix > Incidental Mutations

Incidental Mutation 'R5786:Fam171b'

447994

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83812636-83883486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83878236 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 361 (V361I)

Ref Sequence

ENSEMBL: ENSMUSP00000062702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051454]

Predicted Effect

probably benign
Transcript: ENSMUST00000051454
AA Change: V361I

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: V361I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
Pfam:UPF0560	80	591	4.3e-101	PFAM
Pfam:UPF0560	583	821	6.7e-49	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,968,188	D200E	probably damaging	Het
4930578I06Rik	C	A	14: 63,973,242	R179L	probably damaging	Het
Abhd5	A	G	9: 122,363,803		probably null	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,578,089		probably null	Het
Ano5	G	A	7: 51,566,318	D348N	possibly damaging	Het
Apob	C	T	12: 8,015,304	T4091I	possibly damaging	Het
Avil	G	A	10: 127,016,499		probably null	Het
C530008M17Rik	T	C	5: 76,866,196		probably null	Het
Cacna1a	T	C	8: 84,415,721		probably benign	Het
Capn7	T	C	14: 31,360,145	L436P	probably damaging	Het
Ccdc33	A	G	9: 58,029,952	S655P	possibly damaging	Het
Ccr6	T	C	17: 8,256,412	S150P	probably damaging	Het
Cd1d1	T	C	3: 86,998,788	N60S	probably benign	Het
Ckap5	A	G	2: 91,616,296		probably null	Het
Col15a1	A	G	4: 47,280,865	E753G	possibly damaging	Het
Col1a2	C	T	6: 4,530,223	R699W	unknown	Het
Csf2rb	T	C	15: 78,348,955	Y821H	probably damaging	Het
Cyp3a11	A	G	5: 145,862,474	I301T	possibly damaging	Het
Dpp3	C	T	19: 4,918,322	G241R	possibly damaging	Het
Dpyd	G	T	3: 119,427,237	M952I	probably damaging	Het
Dsg3	A	T	18: 20,521,571	I111L	possibly damaging	Het
Ect2	A	G	3: 27,146,953	F123L	probably damaging	Het
Ehmt2	G	C	17: 34,910,743	D961H	probably damaging	Het
Esp1	A	G	17: 40,730,918	I34V	probably benign	Het
Flnc	T	A	6: 29,459,537	Y2545*	probably null	Het
Fmo4	C	T	1: 162,803,717	G227D	probably benign	Het
Grn	C	T	11: 102,434,043	Q153*	probably null	Het
H2-DMb1	T	G	17: 34,153,434	S12R	possibly damaging	Het
Ica1	G	T	6: 8,672,391	N203K	possibly damaging	Het
Kdm4c	C	A	4: 74,359,485	T792K	probably damaging	Het
Kif19a	T	A	11: 114,779,223	Y81*	probably null	Het
Kifc2	G	T	15: 76,664,378	C440F	probably damaging	Het
Lpin2	A	G	17: 71,230,273	T234A	probably benign	Het
Lysmd2	C	A	9: 75,635,603	P164Q	probably benign	Het
Maea	T	A	5: 33,368,683	D234E	probably benign	Het
Map4k1	T	A	7: 29,000,020	V572E	probably damaging	Het
Med6	C	T	12: 81,573,959	G166R	probably null	Het
Mtmr10	T	C	7: 64,337,710	I666T	probably damaging	Het
Myh14	T	A	7: 44,613,463	K1777M	probably benign	Het
Naip6	G	T	13: 100,300,216	Q600K	probably benign	Het
Obscn	A	G	11: 59,032,691	S6461P	probably damaging	Het
Olfr350	T	C	2: 36,850,049	M1T	probably null	Het
Osbpl7	T	A	11: 97,065,832	V567E	probably damaging	Het
Rad51ap2	A	T	12: 11,456,920	D281V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpl24	C	A	16: 55,967,153	H59N	possibly damaging	Het
Rtl1	G	A	12: 109,592,619	L929F	possibly damaging	Het
Runx3	C	T	4: 135,163,264	T159I	probably damaging	Het
Serpine2	T	C	1: 79,816,920	I99V	probably benign	Het
Slc12a6	C	A	2: 112,284,722	P12Q	probably benign	Het
Slc25a18	T	C	6: 120,792,074	L184P	probably damaging	Het
Smg1	T	C	7: 118,212,897	D57G	probably benign	Het
Spdye4c	T	A	2: 128,596,841	*340K	probably null	Het
Srsf5	G	A	12: 80,949,537	E162K	possibly damaging	Het
Ssc5d	T	C	7: 4,936,818	V751A	probably benign	Het
Tcf3	T	C	10: 80,419,499	N157S	probably benign	Het
Tdrd7	T	C	4: 45,989,082	V71A	probably benign	Het
Tex14	T	C	11: 87,514,295	C678R	probably damaging	Het
Tgm3	A	T	2: 130,026,784	K214*	probably null	Het
Vps53	A	G	11: 76,063,007	I659T	probably benign	Het
Zfp597	A	T	16: 3,866,159	C244*	probably null	Het
Zfp933	T	A	4: 147,828,407		probably null	Het

Other mutations in Fam171b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Fam171b	APN	2	83876728	nonsense	probably null
IGL01309:Fam171b	APN	2	83879447	nonsense	probably null
IGL01515:Fam171b	APN	2	83880233	missense	probably damaging	0.99
IGL01604:Fam171b	APN	2	83879600	missense	possibly damaging	0.50
IGL01729:Fam171b	APN	2	83855537	splice site	probably benign
IGL01784:Fam171b	APN	2	83879687	missense	possibly damaging	0.83
P0028:Fam171b	UTSW	2	83853439	missense	probably damaging	1.00
R1203:Fam171b	UTSW	2	83812969	missense	probably benign	0.05
R1530:Fam171b	UTSW	2	83880189	missense	probably damaging	1.00
R1539:Fam171b	UTSW	2	83880098	missense	probably benign	0.00
R1564:Fam171b	UTSW	2	83880284	missense	probably damaging	1.00
R1858:Fam171b	UTSW	2	83853381	missense	probably benign
R1940:Fam171b	UTSW	2	83812874	small deletion	probably benign
R2131:Fam171b	UTSW	2	83879858	missense	probably damaging	0.97
R3746:Fam171b	UTSW	2	83879600	missense	probably damaging	1.00
R3777:Fam171b	UTSW	2	83878261	missense	probably benign	0.03
R3840:Fam171b	UTSW	2	83880062	missense	possibly damaging	0.76
R4920:Fam171b	UTSW	2	83880359	missense	possibly damaging	0.73
R5007:Fam171b	UTSW	2	83855509	nonsense	probably null
R5178:Fam171b	UTSW	2	83879987	missense	probably damaging	1.00
R5282:Fam171b	UTSW	2	83853605	critical splice donor site	probably null
R5544:Fam171b	UTSW	2	83855527	missense	possibly damaging	0.58
R5614:Fam171b	UTSW	2	83812873	missense	probably damaging	0.99
R6190:Fam171b	UTSW	2	83876698	missense	probably benign
R6247:Fam171b	UTSW	2	83879208	missense	probably damaging	1.00
R6309:Fam171b	UTSW	2	83860460	missense	probably damaging	0.99
R6324:Fam171b	UTSW	2	83879264	nonsense	probably null
R7127:Fam171b	UTSW	2	83879766	missense	probably benign	0.25
R7201:Fam171b	UTSW	2	83878230	missense	probably damaging	1.00
R7223:Fam171b	UTSW	2	83878230	missense	probably damaging	1.00
R7689:Fam171b	UTSW	2	83879388	missense	probably benign	0.38
R7904:Fam171b	UTSW	2	83853505	missense	probably damaging	0.97
R8069:Fam171b	UTSW	2	83812874	small deletion	probably benign
R8236:Fam171b	UTSW	2	83880206	missense	probably damaging	0.97
R8252:Fam171b	UTSW	2	83878242	missense	probably benign	0.00
R8458:Fam171b	UTSW	2	83860520	missense	probably benign	0.21
R8463:Fam171b	UTSW	2	83853457	missense	probably damaging	1.00
R8546:Fam171b	UTSW	2	83855451	missense	probably damaging	1.00
RF001:Fam171b	UTSW	2	83812886	small insertion	probably benign
RF009:Fam171b	UTSW	2	83812880	small insertion	probably benign
RF011:Fam171b	UTSW	2	83812873	small insertion	probably benign
RF011:Fam171b	UTSW	2	83812895	small insertion	probably benign
RF013:Fam171b	UTSW	2	83812895	small insertion	probably benign
RF027:Fam171b	UTSW	2	83812876	small insertion	probably benign
RF029:Fam171b	UTSW	2	83812892	small insertion	probably benign
RF036:Fam171b	UTSW	2	83812892	small insertion	probably benign
RF055:Fam171b	UTSW	2	83812876	small insertion	probably benign
RF056:Fam171b	UTSW	2	83812896	small insertion	probably benign
RF060:Fam171b	UTSW	2	83812877	small insertion	probably benign
RF063:Fam171b	UTSW	2	83812896	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTACTCAGTCTGTCTCATCCAG -3'
(R):5'- CATGTGTATATATGTGCATGTCTGA -3'

Sequencing Primer
(F):5'- TGTCTCATCCAGGGTGAAAC -3'
(R):5'- ATTGCAGCTTCCGTAAGAGC -3'

Posted On

2016-12-15