Mutagenetix > Incidental Mutation

Incidental Mutation 'R0111:Ipo9'

20432

Institutional Source

Beutler Lab

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

0710008K06Rik, Imp9

MMRRC Submission

038397-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0111 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

135310050-135358237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135333662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 340 (V340A)

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

possibly damaging
Transcript: ENSMUST00000041023
AA Change: V340A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: V340A

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: V340A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879
AA Change: V340A

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: ENSMUST00000161704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187450

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

Meta Mutation Damage Score

0.2890

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 56,124,073 (GRCm39)	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,761,738 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,606,743 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,594,864 (GRCm39)	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157 (GRCm39)	D101V	probably damaging	Het
Cdh2	A	T	18: 16,907,566 (GRCm39)	N57K	probably benign	Het
Clec4d	C	A	6: 123,245,006 (GRCm39)	Y95*	probably null	Het
Cracr2a	A	G	6: 127,581,024 (GRCm39)	T67A	probably benign	Het
Dennd5a	A	T	7: 109,533,961 (GRCm39)	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,507,843 (GRCm39)	D3076G	probably benign	Het
Espnl	T	C	1: 91,272,464 (GRCm39)	M608T	probably benign	Het
Fam149a	C	T	8: 45,794,183 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,339 (GRCm39)	V1884A	probably damaging	Het
Helz2	A	C	2: 180,879,595 (GRCm39)	S674R	probably benign	Het
Hoxa2	T	G	6: 52,141,467 (GRCm39)		probably null	Het
Ifi47	T	A	11: 48,986,897 (GRCm39)	N221K	probably damaging	Het
Kalrn	A	T	16: 33,851,960 (GRCm39)	N373K	probably damaging	Het
Kif26a	T	C	12: 112,129,771 (GRCm39)		probably benign	Het
Kiss1r	A	G	10: 79,754,523 (GRCm39)	T6A	possibly damaging	Het
Lama1	A	T	17: 68,044,493 (GRCm39)	I131F	probably damaging	Het
Nefm	T	C	14: 68,361,991 (GRCm39)	D91G	probably benign	Het
Nos3	C	T	5: 24,577,702 (GRCm39)	T572I	probably damaging	Het
Notch2	T	C	3: 98,046,077 (GRCm39)	F1710L	probably benign	Het
Or13e8	T	C	4: 43,696,648 (GRCm39)	N175S	probably damaging	Het
Or6c6c	T	A	10: 129,541,146 (GRCm39)	I133N	probably damaging	Het
Ostm1	T	C	10: 42,555,254 (GRCm39)	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,462,651 (GRCm39)	Y1445*	probably null	Het
Pde1b	T	C	15: 103,411,940 (GRCm39)	S14P	probably benign	Het
Pitpna	T	C	11: 75,516,310 (GRCm39)	V265A	probably benign	Het
Plec	G	T	15: 76,062,846 (GRCm39)	T2476K	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,493,808 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,533,717 (GRCm39)	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,728,629 (GRCm39)		probably benign	Het
Ptpn23	T	C	9: 110,214,691 (GRCm39)	D1570G	probably damaging	Het
Rab42	T	C	4: 132,029,676 (GRCm39)	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,438,737 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,414,983 (GRCm39)	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,778,443 (GRCm39)	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946 (GRCm39)	V772I	possibly damaging	Het
Scaper	A	G	9: 55,510,074 (GRCm39)	M654T	probably benign	Het
Shld2	T	C	14: 33,989,686 (GRCm39)	K407E	probably damaging	Het
Sipa1l3	G	A	7: 29,047,743 (GRCm39)	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,187,744 (GRCm39)	R162S	probably benign	Het
Spryd3	A	T	15: 102,036,972 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,166 (GRCm39)	F66L	probably benign	Het
Tent5c	T	C	3: 100,380,102 (GRCm39)	D218G	probably damaging	Het
Thap2	T	C	10: 115,208,532 (GRCm39)	N196S	probably benign	Het
Themis2	C	A	4: 132,517,236 (GRCm39)	R88L	probably benign	Het
Trip12	A	T	1: 84,736,854 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,528,437 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,892,624 (GRCm39)	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,435,022 (GRCm39)	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,117,525 (GRCm39)	D604G	probably damaging	Het
Wdr90	A	G	17: 26,067,418 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,338,722 (GRCm39)	N321I	probably damaging	Het
Zfp595	A	G	13: 67,468,984 (GRCm39)	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,491,139 (GRCm39)	H271L	probably damaging	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
IGL01944:Ipo9	APN	1	135,333,624 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CTCACTGCTTACAGGAAGTGCTGAC -3'
(R):5'- TCGAAGTCCCACATGATGGTAGCC -3'

Sequencing Primer
(F):5'- CTTACAGGAAGTGCTGACTAGGTTC -3'
(R):5'- ACATGATGGTAGCCTTCATTTCTG -3'

Posted On

2013-04-11