Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Ipo9'

436489

Institutional Source

Beutler Lab

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135382312-135430499 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135402245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 486 (L486F)

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: L486F

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: L486F

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 damaging
Transcript: ENSMUST00000161032
AA Change: L486F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879
AA Change: L486F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,426,040	W188R	possibly damaging	Het
Agrn	T	C	4: 156,178,497	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490	S570P	probably benign	Het
Ano9	C	G	7: 141,110,482	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,634,437	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393	M446L	probably damaging	Het
D430042O09Rik	T	C	7: 125,854,561	V1150A	probably benign	Het
Dennd2c	T	A	3: 103,161,555	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dusp6	A	G	10: 99,266,241	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697	T57S	probably damaging	Het
Gjc2	A	G	11: 59,177,359	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,709,092		probably benign	Het
Gpr158	A	G	2: 21,826,290	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmgcs1	A	G	13: 119,699,815		probably null	Het
Invs	A	T	4: 48,416,084	T655S	probably benign	Het
Kcnj6	A	T	16: 94,832,965	L96M	probably benign	Het
Lfng	A	G	5: 140,614,267	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863	M1K	probably null	Het
Mical1	A	T	10: 41,478,965	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184	E2A	probably benign	Het
Omg	A	G	11: 79,501,758	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567	V2124A	probably damaging	Het
Trpm4	A	T	7: 45,310,332	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,362,676	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713	E85G	possibly 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
IGL01941:Ipo9	APN	1	135408073	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAAAGGACTAGGCAGGGGTA -3'
(R):5'- GAAATACTGACAAATGATTTGGGATC -3'

Sequencing Primer
(F):5'- CTAGGCAGGGGTAATATAGGATAC -3'
(R):5'- ACTTTGGAATACTCTGAGGGATC -3'

Posted On

2016-10-24