Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Ipo9'

181143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

135382312-135430499 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 135408073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 202 (V202G)

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: V202G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: V202G

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

possibly damaging
Transcript: ENSMUST00000161032
AA Change: V202G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879
AA Change: V202G

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187450

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Adam3	G	T	8: 24,681,446		probably benign	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc129	A	G	6: 55,968,045	R584G	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cep120	T	C	18: 53,723,148	D399G	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
Grik5	A	T	7: 25,065,182	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Hecw1	T	C	13: 14,316,310	Y699C	probably benign	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,377,179	A55V	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	probably damaging	Het

Other mutations in Ipo9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Ipo9	APN	1	135400059	missense	probably damaging	1.00
IGL01611:Ipo9	APN	1	135386693	missense	possibly damaging	0.76
IGL01944:Ipo9	APN	1	135405886	missense	probably damaging	0.98
IGL01959:Ipo9	APN	1	135420355	critical splice acceptor site	probably null
IGL02649:Ipo9	APN	1	135385934	missense	possibly damaging	0.92
IGL02697:Ipo9	APN	1	135390576	missense	probably benign	0.00
IGL03286:Ipo9	APN	1	135407078	intron	probably benign
FR4304:Ipo9	UTSW	1	135386275	small insertion	probably benign
FR4304:Ipo9	UTSW	1	135386279	nonsense	probably null
FR4340:Ipo9	UTSW	1	135386269	small insertion	probably benign
FR4340:Ipo9	UTSW	1	135386271	small insertion	probably benign
FR4548:Ipo9	UTSW	1	135386275	small insertion	probably benign
FR4589:Ipo9	UTSW	1	135386266	small insertion	probably benign
FR4589:Ipo9	UTSW	1	135386281	small insertion	probably benign
FR4976:Ipo9	UTSW	1	135386281	small insertion	probably benign
R0111:Ipo9	UTSW	1	135405924	missense	probably damaging	0.97
R0238:Ipo9	UTSW	1	135404336	splice site	probably benign
R0239:Ipo9	UTSW	1	135404336	splice site	probably benign
R0279:Ipo9	UTSW	1	135420363	intron	probably benign
R0704:Ipo9	UTSW	1	135386268	small deletion	probably benign
R1070:Ipo9	UTSW	1	135406543	missense	possibly damaging	0.89
R1282:Ipo9	UTSW	1	135402292	missense	possibly damaging	0.48
R1467:Ipo9	UTSW	1	135406543	missense	possibly damaging	0.89
R1467:Ipo9	UTSW	1	135406543	missense	possibly damaging	0.89
R1728:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1728:Ipo9	UTSW	1	135386271	small insertion	probably benign
R1728:Ipo9	UTSW	1	135402250	missense	probably benign
R1729:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1729:Ipo9	UTSW	1	135402250	missense	probably benign
R1730:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1730:Ipo9	UTSW	1	135402250	missense	probably benign
R1739:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1739:Ipo9	UTSW	1	135402250	missense	probably benign
R1762:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1762:Ipo9	UTSW	1	135402250	missense	probably benign
R1783:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1783:Ipo9	UTSW	1	135402250	missense	probably benign
R1784:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1784:Ipo9	UTSW	1	135402250	missense	probably benign
R1785:Ipo9	UTSW	1	135386268	small insertion	probably benign
R1785:Ipo9	UTSW	1	135386281	small insertion	probably benign
R1785:Ipo9	UTSW	1	135402250	missense	probably benign
R1899:Ipo9	UTSW	1	135400146	missense	probably damaging	0.99
R2049:Ipo9	UTSW	1	135386268	small insertion	probably benign
R2049:Ipo9	UTSW	1	135402250	missense	probably benign
R2130:Ipo9	UTSW	1	135386268	small insertion	probably benign
R2130:Ipo9	UTSW	1	135402250	missense	probably benign
R2131:Ipo9	UTSW	1	135386268	small insertion	probably benign
R2131:Ipo9	UTSW	1	135402250	missense	probably benign
R2133:Ipo9	UTSW	1	135386268	small insertion	probably benign
R2133:Ipo9	UTSW	1	135386275	small insertion	probably benign
R2133:Ipo9	UTSW	1	135402250	missense	probably benign
R2136:Ipo9	UTSW	1	135394285	missense	probably damaging	0.98
R2141:Ipo9	UTSW	1	135386268	small insertion	probably benign
R2141:Ipo9	UTSW	1	135402250	missense	probably benign
R2142:Ipo9	UTSW	1	135386268	small insertion	probably benign
R2142:Ipo9	UTSW	1	135386275	small insertion	probably benign
R2142:Ipo9	UTSW	1	135386282	small insertion	probably benign
R2142:Ipo9	UTSW	1	135402250	missense	probably benign
R2356:Ipo9	UTSW	1	135406817	missense	probably benign	0.00
R2923:Ipo9	UTSW	1	135400129	missense	probably benign	0.25
R3161:Ipo9	UTSW	1	135409476	missense	probably benign	0.43
R3162:Ipo9	UTSW	1	135409476	missense	probably benign	0.43
R3162:Ipo9	UTSW	1	135409476	missense	probably benign	0.43
R4086:Ipo9	UTSW	1	135388690	unclassified	probably benign
R4679:Ipo9	UTSW	1	135394169	missense	probably benign
R4816:Ipo9	UTSW	1	135406550	missense	probably benign	0.21
R4956:Ipo9	UTSW	1	135404222	critical splice donor site	probably null
R5052:Ipo9	UTSW	1	135388611	splice site	probably null
R5055:Ipo9	UTSW	1	135402359	nonsense	probably null
R5230:Ipo9	UTSW	1	135420070	missense	probably damaging	1.00
R5240:Ipo9	UTSW	1	135389606	unclassified	probably benign
R5257:Ipo9	UTSW	1	135385435	missense	probably damaging	1.00
R5340:Ipo9	UTSW	1	135385432	missense	probably benign	0.00
R5560:Ipo9	UTSW	1	135402245	missense	probably damaging	0.99
R5602:Ipo9	UTSW	1	135402245	missense	probably damaging	0.99
R5604:Ipo9	UTSW	1	135402245	missense	probably damaging	0.99
R5654:Ipo9	UTSW	1	135385472	nonsense	probably null
R6018:Ipo9	UTSW	1	135390536	critical splice donor site	probably null
R6128:Ipo9	UTSW	1	135390573	missense	possibly damaging	0.90
R6841:Ipo9	UTSW	1	135386308	missense	probably benign
R7230:Ipo9	UTSW	1	135406758	critical splice donor site	probably benign
R7255:Ipo9	UTSW	1	135385988	missense	probably benign	0.01
R7383:Ipo9	UTSW	1	135388673	missense	probably damaging	1.00
R7844:Ipo9	UTSW	1	135394324	missense	probably benign	0.00
R7889:Ipo9	UTSW	1	135406853	missense	probably benign	0.22
R8125:Ipo9	UTSW	1	135403340	missense	probably benign	0.00
R8823:Ipo9	UTSW	1	135419339	missense	probably damaging	0.99
R8889:Ipo9	UTSW	1	135386806	missense	possibly damaging	0.50
R8892:Ipo9	UTSW	1	135386806	missense	possibly damaging	0.50
R8906:Ipo9	UTSW	1	135394213	missense	probably damaging	1.00
R8926:Ipo9	UTSW	1	135386214	splice site	probably benign
R9084:Ipo9	UTSW	1	135406825	missense	probably benign	0.01
R9215:Ipo9	UTSW	1	135419295	missense	probably benign	0.05
R9756:Ipo9	UTSW	1	135386319	missense	probably benign	0.00
Y5405:Ipo9	UTSW	1	135386269	small insertion	probably benign
Y5405:Ipo9	UTSW	1	135386275	small insertion	probably benign
Y5405:Ipo9	UTSW	1	135386284	small insertion	probably benign

Posted On

2014-05-07