Mutagenetix > Incidental Mutation

Incidental Mutation 'R5230:Ipo9'

403694

Institutional Source

Beutler Lab

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

0710008K06Rik, Imp9

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135310050-135358237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135347808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 78 (S78L)

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: S78L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: S78L

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

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: S78L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879
AA Change: S78L

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

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Abca5	A	T	11: 110,210,686 (GRCm39)	D164E	probably benign	Het
Adamts5	T	C	16: 85,666,956 (GRCm39)	D512G	probably damaging	Het
Ankrd11	G	A	8: 123,617,216 (GRCm39)	T2191I	probably benign	Het
Anxa3	T	C	5: 96,986,171 (GRCm39)	F270S	possibly damaging	Het
Bard1	A	G	1: 71,092,770 (GRCm39)		probably null	Het
Ccdc142	T	C	6: 83,084,777 (GRCm39)	V591A	probably damaging	Het
Col6a3	C	T	1: 90,716,776 (GRCm39)	E1613K	unknown	Het
Dnah9	T	A	11: 65,975,492 (GRCm39)	H1519L	probably damaging	Het
Egf	T	C	3: 129,511,673 (GRCm39)	D498G	possibly damaging	Het
Enah	A	C	1: 181,763,235 (GRCm39)		probably benign	Het
Fat3	A	T	9: 15,901,856 (GRCm39)	N3056K	possibly damaging	Het
Gm4846	T	A	1: 166,317,748 (GRCm39)	N223Y	probably benign	Het
Gm8104	A	G	14: 42,958,975 (GRCm39)	N55S	probably damaging	Het
Gpatch8	A	G	11: 102,370,404 (GRCm39)	S1045P	probably damaging	Het
Haus4	A	G	14: 54,781,251 (GRCm39)	M275T	probably benign	Het
Ighe	T	A	12: 113,235,006 (GRCm39)	T385S	unknown	Het
Kif21b	G	A	1: 136,099,411 (GRCm39)	V1473M	probably damaging	Het
Lama1	T	A	17: 68,052,078 (GRCm39)	Y345*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Loxl3	A	G	6: 83,012,775 (GRCm39)	T105A	probably benign	Het
Map4k3	A	G	17: 80,922,599 (GRCm39)	S441P	probably benign	Het
Med12l	C	T	3: 59,153,209 (GRCm39)	T1078I	probably damaging	Het
Mef2c	T	A	13: 83,801,026 (GRCm39)	M242K	possibly damaging	Het
Morc2b	A	G	17: 33,355,226 (GRCm39)	Y849H	probably benign	Het
Mroh2b	T	A	15: 4,971,004 (GRCm39)	V1003E	probably benign	Het
Myo15a	T	A	11: 60,393,674 (GRCm39)	M1135K	possibly damaging	Het
Nckap1l	A	T	15: 103,392,066 (GRCm39)	I834F	probably benign	Het
Nrg1	T	A	8: 32,308,507 (GRCm39)	Y503F	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4f61	A	T	2: 111,922,734 (GRCm39)	I104N	probably benign	Het
Pcdhga2	T	C	18: 37,802,795 (GRCm39)	V213A	probably benign	Het
Pdzd2	A	T	15: 12,390,119 (GRCm39)	M826K	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Rnf38	T	C	4: 44,149,176 (GRCm39)	Q57R	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpina6	T	C	12: 103,618,157 (GRCm39)	T219A	probably benign	Het
Spata31d1c	T	A	13: 65,183,248 (GRCm39)	N263K	probably benign	Het
Spef2	T	G	15: 9,667,316 (GRCm39)	I791L	possibly damaging	Het
Sv2a	T	C	3: 96,092,776 (GRCm39)	C159R	probably damaging	Het
Tbc1d31	T	A	15: 57,824,315 (GRCm39)	L859Q	probably damaging	Het
Tecta	C	A	9: 42,306,239 (GRCm39)	R63L	probably damaging	Het
Tex52	A	G	6: 128,361,779 (GRCm39)	E252G	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,608 (GRCm39)	I257V	possibly damaging	Het
Tpk1	A	G	6: 43,400,653 (GRCm39)	L172P	probably damaging	Het
Trim3	T	G	7: 105,268,720 (GRCm39)	N78T	possibly damaging	Het
Try5	A	G	6: 41,289,312 (GRCm39)	V88A	probably benign	Het
Vmn1r222	T	G	13: 23,417,172 (GRCm39)	M14L	probably benign	Het
Wdr90	A	T	17: 26,074,277 (GRCm39)	V678E	probably benign	Het
Zan	A	G	5: 137,452,340 (GRCm39)	L1543P	unknown	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
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
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'- TTCATAATGCTGCCCACCAATC -3'
(R):5'- AATCCGTCAGGTAAGTCCAGG -3'

Sequencing Primer
(F):5'- ATAATGCTGCCCACCAATCTTTCTTC -3'
(R):5'- CGTCAGGTAAGTCCAGGGTGAC -3'

Posted On

2016-07-22