Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Fam171b'

604259

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 #

RF029 (G1)

Quality Score

214.472

Status

Not validated

Chromosome

Chromosomal Location

83642980-83713830 bp(+) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCAGC to GCAGCATCAGC at 83643236 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: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	GGTGGCCAG	GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG	6: 131,529,858 (GRCm39)		probably benign	Het
Abca17	T	TCCCTC	17: 24,506,701 (GRCm39)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,518,310 (GRCm39)		probably null	Het
Cacna1a	CCA	CCAACA	8: 85,365,353 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 86,922,483 (GRCm39)		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 86,922,495 (GRCm39)		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,327,753 (GRCm39)		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,821,419 (GRCm39)		probably null	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Exd2	CCACAGC	CC	12: 80,522,720 (GRCm39)		probably null	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTTCGTGTGCTGGT	5: 110,526,005 (GRCm39)		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)		probably null	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 71,313,665 (GRCm39)		probably benign	Het
Gm47955	G	GTTGTGGCTT	1: 82,938,248 (GRCm39)		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,060,268 (GRCm39)		probably benign	Het
Ifi208	AGATG	AG	1: 173,505,262 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,019,991 (GRCm39)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 181,339,372 (GRCm39)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,339,381 (GRCm39)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,458,075 (GRCm39)		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,458,086 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Polr1has	CG	CCACCACCACCACCCCCCCCAGG	17: 37,275,963 (GRCm39)		probably benign	Het
Rasa2	CGC	CGCAGC	9: 96,513,520 (GRCm39)		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 155,938,015 (GRCm39)		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,684,950 (GRCm39)		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,673,172 (GRCm39)		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 109,682,724 (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
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'- TCACCTTGCAGAGCACTTGC -3'
(R):5'- TTTCCCACCCGAGCAAAGAG -3'

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

Posted On

2019-12-04