Mutagenetix > Incidental Mutation

Incidental Mutation 'RF063:Fam171b'

605450

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: 0.120) question?

Stock #

RF063 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

83812636-83883486 bp(+) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

C to CAGCAGA at 83812896 bp (GRCm38)

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: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,883		probably benign	Het
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,884		probably benign	Het
Abca2	G	T	2: 25,447,397	E2421D	probably damaging	Het
Apc	A	AATAAAGCCC	18: 34,282,009		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,256		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
F11r	CCCCCCCCC	CCCCCCCCCCC	1: 171,461,190		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTACGTGTGCTGGT	5: 110,378,139		probably benign	Het
Fbrsl1	GTGCTGGTG	GTGCTGGTGCGTCTGCTGGTG	5: 110,378,143		probably benign	Het
Iqcf4	TCCTTTT	TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT	9: 106,570,617		probably benign	Het
Iqgap1	AGGCCACCACTGCTCACAGGTGCTGTACCT	A	7: 80,723,751		probably null	Het
Kmt2c	GCT	GCTCCT	5: 25,315,764		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 29,021,443		probably null	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,275,973		probably benign	Het
Rassf6	C	CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA	5: 90,608,942		probably null	Het
Sh3pxd2b	TGTGCC	TGTGCCCGTGCC	11: 32,423,051		probably benign	Het
Sorcs2	ATACATACATACCT	AT	5: 36,153,811		probably null	Het
Sry	TGCTGCTGCTGCTGCTG	T	Y: 2,662,595		probably null	Het
Stard8	GAG	GAGTAG	X: 99,066,524		probably null	Het
Tcof1	GATCCCCTTGGC	GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC	18: 60,833,573		probably benign	Het
Thegl	CCAG	CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG	5: 77,016,426		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,801,320		probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGTTGCTGCT	15: 72,801,324		probably benign	Het
Vmn1r74	CAGAGCCACCAAGTACCT	C	7: 11,847,140		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
R5786:Fam171b	UTSW	2	83878236	missense	probably benign	0.38
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
R8706:Fam171b	UTSW	2	83860520	missense	probably benign	0.21
R8792:Fam171b	UTSW	2	83812759	missense	probably damaging	1.00
R9187:Fam171b	UTSW	2	83880021	missense	probably damaging	1.00
R9225:Fam171b	UTSW	2	83880042	missense	probably damaging	1.00
R9266:Fam171b	UTSW	2	83853582	missense	probably damaging	1.00
R9353:Fam171b	UTSW	2	83876684	missense	probably benign	0.13
R9532:Fam171b	UTSW	2	83879868	missense	probably damaging	1.00
R9549:Fam171b	UTSW	2	83812855	missense	probably damaging	0.99
R9621:Fam171b	UTSW	2	83812765	missense	probably damaging	1.00
R9625:Fam171b	UTSW	2	83853570	missense	probably damaging	1.00
R9784:Fam171b	UTSW	2	83860443	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TCACCTTGCAGAGCACTTG -3'
(R):5'- TTTCCCACCCGAGCAAAGAG -3'

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

Posted On

2019-12-04