Mutagenetix > Incidental Mutation

Incidental Mutation 'RF060:Fam171b'

605369

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

Accession Numbers

Essential gene?

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

Stock #

RF060 (G1)

Quality Score

143.467

Status

Not validated

Chromosome

Chromosomal Location

83642980-83713830 bp(+) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GC to GCCGCAAC at 83643221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
A030005L19Rik	GCTG	GCTGTGGCTTCTG	1: 82,891,308 (GRCm39)		probably benign	Het
A030005L19Rik	CTGTGGCTG	CTGTGGCTGATGTGGCTG	1: 82,891,300 (GRCm39)		probably null	Het
Ankhd1	G	GTGGCGC	18: 36,693,975 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGCAG	X: 7,486,299 (GRCm39)		probably benign	Het
Cd109	ATTTATTTAT	ATTTATTTATTTCTTTATTTAT	9: 78,619,807 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,683 (GRCm39)		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,466 (GRCm39)		probably benign	Het
Dnmt1	CGTT	CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT	9: 20,821,438 (GRCm39)		probably null	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Gab3	TTC	TTCCTC	X: 74,043,619 (GRCm39)		probably benign	Het
Garin5a	GTCTGAGGGAGGA	GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA	7: 44,149,949 (GRCm39)		probably null	Het
Garin5a	GAGGA	GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA	7: 44,149,957 (GRCm39)		probably null	Het
Hsdl2	AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,608 (GRCm39)		probably benign	Het
Klra10	TGTAGT	TGT	6: 130,252,784 (GRCm39)		probably benign	Het
L1td1	GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA	GAGGAGGA	4: 98,625,031 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,437 (GRCm39)		probably null	Het
Mamld1	AGC	AGCCGC	X: 70,162,438 (GRCm39)		probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Nefh	GACTTGGCC	GACTTGGCCCCACCTGGGTACTTGGCC	11: 4,891,050 (GRCm39)		probably benign	Het
Nefh	CT	CTGGGCTTCACCTGGGGATT	11: 4,891,052 (GRCm39)		probably benign	Het
Pdk1	CTGGCCT	C	2: 71,703,789 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Rfx4	T	TCTCTCTCTCTCTCTCC	10: 84,694,358 (GRCm39)		probably benign	Het
Spaca1	CTCGCT	CTCGCTGTCGCT	4: 34,049,841 (GRCm39)		probably benign	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCAAG	5: 77,164,274 (GRCm39)		probably benign	Het
St3gal5	G	GCACTC	6: 72,074,836 (GRCm39)		probably null	Het
Stat1	G	T	1: 52,191,419 (GRCm39)	E591D	probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcof1	C	CAGT	18: 60,968,819 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,031 (GRCm39)		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGCTTGTTT	4: 107,047,723 (GRCm39)		probably benign	Het
Zfhx3	G	GAAACAGCAA	8: 109,682,720 (GRCm39)		probably benign	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
R8706:Fam171b	UTSW	2	83,690,864 (GRCm39)	missense	probably benign	0.21
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
RF063:Fam171b	UTSW	2	83,643,240 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCACCTTGCAGAGCACTTGC -3'
(R):5'- TAAGAATCCCGGGAAGCCTG -3'

Sequencing Primer
(F):5'- TCACGTGCGCGAGGATG -3'
(R):5'- TGATGCGATCGCTGGCAC -3'

Posted On

2019-12-04