Mutagenetix > Incidental Mutation

Incidental Mutation 'R8706:Fam171b'

669262

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

MMRRC Submission

068560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83642980-83713830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83690864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 276 (T276A)

Ref Sequence

ENSEMBL: ENSMUSP00000062702 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051454
AA Change: T276A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: T276A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	C	T	9: 59,222,456 (GRCm39)	T461I	probably benign	Het
Adra2b	A	G	2: 127,206,487 (GRCm39)	T335A	probably benign	Het
Ap3b1	T	C	13: 94,545,353 (GRCm39)		probably null	Het
C1rl	T	C	6: 124,470,191 (GRCm39)		probably null	Het
Ccdc142	A	G	6: 83,080,678 (GRCm39)	E470G	probably damaging	Het
Ccm2	T	A	11: 6,539,447 (GRCm39)	I163N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,157,562 (GRCm39)	F1596L	probably benign	Het
Chrna4	A	T	2: 180,679,307 (GRCm39)	F47I	probably damaging	Het
Cx3cl1	A	G	8: 95,506,876 (GRCm39)	T294A	probably benign	Het
Dcun1d4	C	T	5: 73,714,658 (GRCm39)	T275M	probably damaging	Het
Dpp4	T	C	2: 62,208,647 (GRCm39)	I166V	probably benign	Het
Dynap	C	T	18: 70,374,062 (GRCm39)	E155K	unknown	Het
Fmo4	G	A	1: 162,621,592 (GRCm39)	Q540*	probably null	Het
Gtf2i	C	A	5: 134,278,733 (GRCm39)	V633F	probably damaging	Het
Kmt5c	G	T	7: 4,749,153 (GRCm39)	R262L	probably damaging	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Mrps27	T	C	13: 99,541,508 (GRCm39)	V163A	probably damaging	Het
Myh7b	G	A	2: 155,453,669 (GRCm39)		probably null	Het
Myo15a	A	G	11: 60,370,443 (GRCm39)	T1068A	probably benign	Het
Ncor2	T	C	5: 125,145,010 (GRCm39)	E369G	unknown	Het
Neb	T	A	2: 52,181,326 (GRCm39)	M1094L	probably benign	Het
Osbpl10	T	C	9: 115,036,688 (GRCm39)	L228P	probably damaging	Het
Phip	T	A	9: 82,787,765 (GRCm39)	R799S	possibly damaging	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Rassf5	G	T	1: 131,172,782 (GRCm39)	T29N	probably benign	Het
Spata31g1	A	G	4: 42,971,776 (GRCm39)	K370E	probably benign	Het
Tmprss11g	T	A	5: 86,644,404 (GRCm39)	S147C	probably damaging	Het
Ttn	G	A	2: 76,569,134 (GRCm39)	T27253I	probably damaging	Het
Vmn1r59	A	T	7: 5,457,715 (GRCm39)	V15E	possibly damaging	Het
Wnt6	A	C	1: 74,821,947 (GRCm39)	D176A	possibly damaging	Het

Other mutations in Fam171b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Fam171b	APN	2	83,707,072 (GRCm39)	nonsense	probably null
IGL01309:Fam171b	APN	2	83,709,791 (GRCm39)	nonsense	probably null
IGL01515:Fam171b	APN	2	83,710,577 (GRCm39)	missense	probably damaging	0.99
IGL01604:Fam171b	APN	2	83,709,944 (GRCm39)	missense	possibly damaging	0.50
IGL01729:Fam171b	APN	2	83,685,881 (GRCm39)	splice site	probably benign
IGL01784:Fam171b	APN	2	83,710,031 (GRCm39)	missense	possibly damaging	0.83
P0028:Fam171b	UTSW	2	83,683,783 (GRCm39)	missense	probably damaging	1.00
R1203:Fam171b	UTSW	2	83,643,313 (GRCm39)	missense	probably benign	0.05
R1530:Fam171b	UTSW	2	83,710,533 (GRCm39)	missense	probably damaging	1.00
R1539:Fam171b	UTSW	2	83,710,442 (GRCm39)	missense	probably benign	0.00
R1564:Fam171b	UTSW	2	83,710,628 (GRCm39)	missense	probably damaging	1.00
R1858:Fam171b	UTSW	2	83,683,725 (GRCm39)	missense	probably benign
R1940:Fam171b	UTSW	2	83,643,218 (GRCm39)	small deletion	probably benign
R2131:Fam171b	UTSW	2	83,710,202 (GRCm39)	missense	probably damaging	0.97
R3746:Fam171b	UTSW	2	83,709,944 (GRCm39)	missense	probably damaging	1.00
R3777:Fam171b	UTSW	2	83,708,605 (GRCm39)	missense	probably benign	0.03
R3840:Fam171b	UTSW	2	83,710,406 (GRCm39)	missense	possibly damaging	0.76
R4920:Fam171b	UTSW	2	83,710,703 (GRCm39)	missense	possibly damaging	0.73
R5007:Fam171b	UTSW	2	83,685,853 (GRCm39)	nonsense	probably null
R5178:Fam171b	UTSW	2	83,710,331 (GRCm39)	missense	probably damaging	1.00
R5282:Fam171b	UTSW	2	83,683,949 (GRCm39)	critical splice donor site	probably null
R5544:Fam171b	UTSW	2	83,685,871 (GRCm39)	missense	possibly damaging	0.58
R5614:Fam171b	UTSW	2	83,643,217 (GRCm39)	missense	probably damaging	0.99
R5786:Fam171b	UTSW	2	83,708,580 (GRCm39)	missense	probably benign	0.38
R6190:Fam171b	UTSW	2	83,707,042 (GRCm39)	missense	probably benign
R6247:Fam171b	UTSW	2	83,709,552 (GRCm39)	missense	probably damaging	1.00
R6309:Fam171b	UTSW	2	83,690,804 (GRCm39)	missense	probably damaging	0.99
R6324:Fam171b	UTSW	2	83,709,608 (GRCm39)	nonsense	probably null
R7127:Fam171b	UTSW	2	83,710,110 (GRCm39)	missense	probably benign	0.25
R7201:Fam171b	UTSW	2	83,708,574 (GRCm39)	missense	probably damaging	1.00
R7223:Fam171b	UTSW	2	83,708,574 (GRCm39)	missense	probably damaging	1.00
R7689:Fam171b	UTSW	2	83,709,732 (GRCm39)	missense	probably benign	0.38
R7904:Fam171b	UTSW	2	83,683,849 (GRCm39)	missense	probably damaging	0.97
R8069:Fam171b	UTSW	2	83,643,218 (GRCm39)	small deletion	probably benign
R8236:Fam171b	UTSW	2	83,710,550 (GRCm39)	missense	probably damaging	0.97
R8252:Fam171b	UTSW	2	83,708,586 (GRCm39)	missense	probably benign	0.00
R8458:Fam171b	UTSW	2	83,690,864 (GRCm39)	missense	probably benign	0.21
R8463:Fam171b	UTSW	2	83,683,801 (GRCm39)	missense	probably damaging	1.00
R8546:Fam171b	UTSW	2	83,685,795 (GRCm39)	missense	probably damaging	1.00
R8792:Fam171b	UTSW	2	83,643,103 (GRCm39)	missense	probably damaging	1.00
R9187:Fam171b	UTSW	2	83,710,365 (GRCm39)	missense	probably damaging	1.00
R9225:Fam171b	UTSW	2	83,710,386 (GRCm39)	missense	probably damaging	1.00
R9266:Fam171b	UTSW	2	83,683,926 (GRCm39)	missense	probably damaging	1.00
R9353:Fam171b	UTSW	2	83,707,028 (GRCm39)	missense	probably benign	0.13
R9532:Fam171b	UTSW	2	83,710,212 (GRCm39)	missense	probably damaging	1.00
R9549:Fam171b	UTSW	2	83,643,199 (GRCm39)	missense	probably damaging	0.99
R9621:Fam171b	UTSW	2	83,643,109 (GRCm39)	missense	probably damaging	1.00
R9625:Fam171b	UTSW	2	83,683,914 (GRCm39)	missense	probably damaging	1.00
R9784:Fam171b	UTSW	2	83,690,787 (GRCm39)	missense	probably damaging	0.99
RF001:Fam171b	UTSW	2	83,643,230 (GRCm39)	small insertion	probably benign
RF009:Fam171b	UTSW	2	83,643,224 (GRCm39)	small insertion	probably benign
RF011:Fam171b	UTSW	2	83,643,239 (GRCm39)	small insertion	probably benign
RF011:Fam171b	UTSW	2	83,643,217 (GRCm39)	small insertion	probably benign
RF013:Fam171b	UTSW	2	83,643,239 (GRCm39)	small insertion	probably benign
RF027:Fam171b	UTSW	2	83,643,220 (GRCm39)	small insertion	probably benign
RF029:Fam171b	UTSW	2	83,643,236 (GRCm39)	small insertion	probably benign
RF036:Fam171b	UTSW	2	83,643,236 (GRCm39)	small insertion	probably benign
RF055:Fam171b	UTSW	2	83,643,220 (GRCm39)	small insertion	probably benign
RF056:Fam171b	UTSW	2	83,643,240 (GRCm39)	small insertion	probably benign
RF060:Fam171b	UTSW	2	83,643,221 (GRCm39)	small insertion	probably benign
RF063:Fam171b	UTSW	2	83,643,240 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTTTAATCAGACAACTCGGAG -3'
(R):5'- TGGCCCTCAACAAACTGTAC -3'

Sequencing Primer
(F):5'- TCGGAGAGAACTAGATCAACTGATG -3'
(R):5'- TGGCCCTCAACAAACTGTACAAATTG -3'

Posted On

2021-04-30