Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01114:Fam171b'

50552

Institutional Source

Australian Phenomics Network (link to record)

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: 0.121) question?

Stock #

IGL01114

Quality Score

Status

Chromosome

Chromosomal Location

83642980-83713830 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 83707072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 314 (W314*)

Ref Sequence

ENSEMBL: ENSMUSP00000062702 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000051454
AA Change: W314*

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: W314*

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700101I19Rik	T	C	1: 34,618,370 (GRCm39)		probably benign	Het
Abca15	T	G	7: 119,960,643 (GRCm39)	Y702D	probably damaging	Het
Abcc8	T	C	7: 45,754,088 (GRCm39)	K1576R	probably benign	Het
Acot12	T	A	13: 91,905,711 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,895,202 (GRCm39)	I1098V	probably benign	Het
Adcy6	C	T	15: 98,496,857 (GRCm39)	V471M	probably damaging	Het
Ccdc170	C	A	10: 4,508,550 (GRCm39)	D591E	probably benign	Het
Corin	A	C	5: 72,462,354 (GRCm39)	D826E	probably damaging	Het
Cpsf2	T	G	12: 101,956,098 (GRCm39)	N300K	possibly damaging	Het
Csmd2	C	T	4: 128,262,923 (GRCm39)	T703I	probably benign	Het
D130043K22Rik	T	A	13: 25,041,139 (GRCm39)	L187Q	probably damaging	Het
D430041D05Rik	G	T	2: 104,088,511 (GRCm39)	S155*	probably null	Het
Dmrtc2	C	T	7: 24,572,001 (GRCm39)	P32L	probably damaging	Het
Dsel	G	A	1: 111,787,791 (GRCm39)	R915*	probably null	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Gpn1	G	T	5: 31,655,745 (GRCm39)	D103Y	probably damaging	Het
Gpr89	A	T	3: 96,800,865 (GRCm39)	F88I	probably damaging	Het
Ifi27l2a	T	C	12: 103,403,792 (GRCm39)		probably benign	Het
Kdm4d	A	G	9: 14,375,493 (GRCm39)	Y122H	probably damaging	Het
Oas1d	G	A	5: 121,054,907 (GRCm39)	V160I	probably benign	Het
Or5b108	A	G	19: 13,168,598 (GRCm39)	D189G	possibly damaging	Het
Or7e170	A	T	9: 19,794,844 (GRCm39)	Y252*	probably null	Het
Poglut3	T	C	9: 53,299,879 (GRCm39)		probably null	Het
Rrp1b	C	T	17: 32,271,793 (GRCm39)	P288S	probably benign	Het
Sin3b	A	G	8: 73,471,133 (GRCm39)	K360R	probably benign	Het
Sympk	A	G	7: 18,781,498 (GRCm39)	D818G	probably benign	Het
Tecpr2	A	G	12: 110,934,213 (GRCm39)	D1291G	possibly damaging	Het
Tep1	C	T	14: 51,088,096 (GRCm39)	V814M	probably damaging	Het
Tpsg1	T	C	17: 25,592,196 (GRCm39)	V17A	probably benign	Het

Other mutations in Fam171b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
RF060:Fam171b	UTSW	2	83,643,221 (GRCm39)	small insertion	probably benign
RF063:Fam171b	UTSW	2	83,643,240 (GRCm39)	small insertion	probably benign

Posted On

2013-06-21