Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01944:Ipo9'

181195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

0710008K06Rik, Imp9

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01944

Quality Score

Status

Chromosome

Chromosomal Location

135310050-135358237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135333624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 353 (V353F)

Ref Sequence

ENSEMBL: ENSMUSP00000124779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041023] [ENSMUST00000161032] [ENSMUST00000161189] [ENSMUST00000161838]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041023
AA Change: V353F

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: V353F

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
IBN_N	43	119	3.83e-7	SMART
low complexity region	911	922	N/A	INTRINSIC
low complexity region	978	990	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159017

Predicted Effect

probably benign
Transcript: ENSMUST00000159173

SMART Domains

Protein: ENSMUSP00000123869
Gene: ENSMUSG00000041879

Domain	Start	End	E-Value	Type
low complexity region	1	7	N/A	INTRINSIC
SCOP:d1i6la_	18	49	3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161032
AA Change: V353F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879
AA Change: V353F

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
IBN_N	43	119	3.83e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161135

Predicted Effect

probably benign
Transcript: ENSMUST00000161189

SMART Domains

Protein: ENSMUSP00000124492
Gene: ENSMUSG00000041879

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
SCOP:d1i6la_	21	52	4e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161704

Predicted Effect

probably benign
Transcript: ENSMUST00000161838

SMART Domains

Protein: ENSMUSP00000125646
Gene: ENSMUSG00000041879

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
SCOP:d1i6la_	21	52	4e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,040,230 (GRCm39)	V202D	probably damaging	Het
Afdn	A	G	17: 14,030,743 (GRCm39)	N218S	probably damaging	Het
Arhgef1	G	A	7: 24,625,208 (GRCm39)		probably null	Het
Atp1a2	G	T	1: 172,103,754 (GRCm39)	T959K	probably damaging	Het
Atp6v0a2	A	G	5: 124,774,043 (GRCm39)	E96G	probably benign	Het
B9d1	A	T	11: 61,403,205 (GRCm39)	M52L	probably benign	Het
Col6a6	T	A	9: 105,661,108 (GRCm39)	I334F	probably damaging	Het
Drd3	T	C	16: 43,638,671 (GRCm39)	F259L	probably benign	Het
Drosha	T	G	15: 12,889,805 (GRCm39)	L891R	probably damaging	Het
Ecpas	G	T	4: 58,861,544 (GRCm39)	T345K	probably benign	Het
Garin5b	T	C	7: 4,773,694 (GRCm39)	N67S	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Greb1l	T	C	18: 10,557,280 (GRCm39)	V1760A	possibly damaging	Het
Il36b	T	A	2: 24,045,291 (GRCm39)	W48R	probably damaging	Het
Kmt2a	A	T	9: 44,761,064 (GRCm39)	F126I	probably damaging	Het
Mmrn1	T	C	6: 60,948,167 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,924,971 (GRCm39)	C328*	probably null	Het
Or9g19	A	G	2: 85,600,384 (GRCm39)	I80V	probably damaging	Het
Pcdh17	G	T	14: 84,684,960 (GRCm39)	V476L	probably benign	Het
Pcdh17	T	A	14: 84,684,961 (GRCm39)	V476E	probably damaging	Het
Prpf38b	A	T	3: 108,811,991 (GRCm39)	S291R	probably benign	Het
Rap1gap	T	C	4: 137,452,931 (GRCm39)	S601P	probably damaging	Het
Rnf213	T	C	11: 119,307,283 (GRCm39)	Y648H	probably benign	Het
Slfn3	A	G	11: 83,103,974 (GRCm39)	T282A	possibly damaging	Het
Ttll3	C	T	6: 113,391,076 (GRCm39)	T887I	probably benign	Het
Vmn1r197	A	G	13: 22,512,508 (GRCm39)	N143S	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo4	T	C	14: 57,841,855 (GRCm39)	I487V	probably benign	Het

Other mutations in Ipo9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Ipo9	APN	1	135,327,797 (GRCm39)	missense	probably damaging	1.00
IGL01611:Ipo9	APN	1	135,314,431 (GRCm39)	missense	possibly damaging	0.76
IGL01941:Ipo9	APN	1	135,335,811 (GRCm39)	missense	possibly damaging	0.95
IGL01959:Ipo9	APN	1	135,348,093 (GRCm39)	critical splice acceptor site	probably null
IGL02649:Ipo9	APN	1	135,313,672 (GRCm39)	missense	possibly damaging	0.92
IGL02697:Ipo9	APN	1	135,318,314 (GRCm39)	missense	probably benign	0.00
IGL03286:Ipo9	APN	1	135,334,816 (GRCm39)	intron	probably benign
FR4304:Ipo9	UTSW	1	135,314,017 (GRCm39)	nonsense	probably null
FR4304:Ipo9	UTSW	1	135,314,013 (GRCm39)	small insertion	probably benign
FR4340:Ipo9	UTSW	1	135,314,009 (GRCm39)	small insertion	probably benign
FR4340:Ipo9	UTSW	1	135,314,007 (GRCm39)	small insertion	probably benign
FR4548:Ipo9	UTSW	1	135,314,013 (GRCm39)	small insertion	probably benign
FR4589:Ipo9	UTSW	1	135,314,019 (GRCm39)	small insertion	probably benign
FR4589:Ipo9	UTSW	1	135,314,004 (GRCm39)	small insertion	probably benign
FR4976:Ipo9	UTSW	1	135,314,019 (GRCm39)	small insertion	probably benign
R0111:Ipo9	UTSW	1	135,333,662 (GRCm39)	missense	probably damaging	0.97
R0238:Ipo9	UTSW	1	135,332,074 (GRCm39)	splice site	probably benign
R0239:Ipo9	UTSW	1	135,332,074 (GRCm39)	splice site	probably benign
R0279:Ipo9	UTSW	1	135,348,101 (GRCm39)	intron	probably benign
R0704:Ipo9	UTSW	1	135,314,006 (GRCm39)	small deletion	probably benign
R1070:Ipo9	UTSW	1	135,334,281 (GRCm39)	missense	possibly damaging	0.89
R1282:Ipo9	UTSW	1	135,330,030 (GRCm39)	missense	possibly damaging	0.48
R1467:Ipo9	UTSW	1	135,334,281 (GRCm39)	missense	possibly damaging	0.89
R1467:Ipo9	UTSW	1	135,334,281 (GRCm39)	missense	possibly damaging	0.89
R1728:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1728:Ipo9	UTSW	1	135,314,009 (GRCm39)	small insertion	probably benign
R1728:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1729:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1729:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1730:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1730:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1739:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1739:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1762:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1762:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1783:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1783:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1784:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1784:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1785:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R1785:Ipo9	UTSW	1	135,314,019 (GRCm39)	small insertion	probably benign
R1785:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R1899:Ipo9	UTSW	1	135,327,884 (GRCm39)	missense	probably damaging	0.99
R2049:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R2049:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R2130:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R2130:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R2131:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R2131:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R2133:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R2133:Ipo9	UTSW	1	135,314,013 (GRCm39)	small insertion	probably benign
R2133:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R2136:Ipo9	UTSW	1	135,322,023 (GRCm39)	missense	probably damaging	0.98
R2141:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R2141:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R2142:Ipo9	UTSW	1	135,314,020 (GRCm39)	small insertion	probably benign
R2142:Ipo9	UTSW	1	135,329,988 (GRCm39)	missense	probably benign
R2142:Ipo9	UTSW	1	135,314,006 (GRCm39)	small insertion	probably benign
R2142:Ipo9	UTSW	1	135,314,013 (GRCm39)	small insertion	probably benign
R2356:Ipo9	UTSW	1	135,334,555 (GRCm39)	missense	probably benign	0.00
R2923:Ipo9	UTSW	1	135,327,867 (GRCm39)	missense	probably benign	0.25
R3161:Ipo9	UTSW	1	135,337,214 (GRCm39)	missense	probably benign	0.43
R3162:Ipo9	UTSW	1	135,337,214 (GRCm39)	missense	probably benign	0.43
R3162:Ipo9	UTSW	1	135,337,214 (GRCm39)	missense	probably benign	0.43
R4086:Ipo9	UTSW	1	135,316,428 (GRCm39)	unclassified	probably benign
R4679:Ipo9	UTSW	1	135,321,907 (GRCm39)	missense	probably benign
R4816:Ipo9	UTSW	1	135,334,288 (GRCm39)	missense	probably benign	0.21
R4956:Ipo9	UTSW	1	135,331,960 (GRCm39)	critical splice donor site	probably null
R5052:Ipo9	UTSW	1	135,316,349 (GRCm39)	splice site	probably null
R5055:Ipo9	UTSW	1	135,330,097 (GRCm39)	nonsense	probably null
R5230:Ipo9	UTSW	1	135,347,808 (GRCm39)	missense	probably damaging	1.00
R5240:Ipo9	UTSW	1	135,317,344 (GRCm39)	unclassified	probably benign
R5257:Ipo9	UTSW	1	135,313,173 (GRCm39)	missense	probably damaging	1.00
R5340:Ipo9	UTSW	1	135,313,170 (GRCm39)	missense	probably benign	0.00
R5560:Ipo9	UTSW	1	135,329,983 (GRCm39)	missense	probably damaging	0.99
R5602:Ipo9	UTSW	1	135,329,983 (GRCm39)	missense	probably damaging	0.99
R5604:Ipo9	UTSW	1	135,329,983 (GRCm39)	missense	probably damaging	0.99
R5654:Ipo9	UTSW	1	135,313,210 (GRCm39)	nonsense	probably null
R6018:Ipo9	UTSW	1	135,318,274 (GRCm39)	critical splice donor site	probably null
R6128:Ipo9	UTSW	1	135,318,311 (GRCm39)	missense	possibly damaging	0.90
R6841:Ipo9	UTSW	1	135,314,046 (GRCm39)	missense	probably benign
R7230:Ipo9	UTSW	1	135,334,496 (GRCm39)	critical splice donor site	probably benign
R7255:Ipo9	UTSW	1	135,313,726 (GRCm39)	missense	probably benign	0.01
R7383:Ipo9	UTSW	1	135,316,411 (GRCm39)	missense	probably damaging	1.00
R7844:Ipo9	UTSW	1	135,322,062 (GRCm39)	missense	probably benign	0.00
R7889:Ipo9	UTSW	1	135,334,591 (GRCm39)	missense	probably benign	0.22
R8125:Ipo9	UTSW	1	135,331,078 (GRCm39)	missense	probably benign	0.00
R8823:Ipo9	UTSW	1	135,347,077 (GRCm39)	missense	probably damaging	0.99
R8889:Ipo9	UTSW	1	135,314,544 (GRCm39)	missense	possibly damaging	0.50
R8892:Ipo9	UTSW	1	135,314,544 (GRCm39)	missense	possibly damaging	0.50
R8906:Ipo9	UTSW	1	135,321,951 (GRCm39)	missense	probably damaging	1.00
R8926:Ipo9	UTSW	1	135,313,952 (GRCm39)	splice site	probably benign
R9084:Ipo9	UTSW	1	135,334,563 (GRCm39)	missense	probably benign	0.01
R9215:Ipo9	UTSW	1	135,347,033 (GRCm39)	missense	probably benign	0.05
R9756:Ipo9	UTSW	1	135,314,057 (GRCm39)	missense	probably benign	0.00
Y5405:Ipo9	UTSW	1	135,314,022 (GRCm39)	small insertion	probably benign
Y5405:Ipo9	UTSW	1	135,314,013 (GRCm39)	small insertion	probably benign
Y5405:Ipo9	UTSW	1	135,314,007 (GRCm39)	small insertion	probably benign

Posted On

2014-05-07