Mutagenetix > Incidental Mutation

Incidental Mutation 'R8823:Ipo9'

673256

Institutional Source

Beutler Lab

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

0710008K06Rik, Imp9

MMRRC Submission

068656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135310050-135358237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135347077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 138 (W138R)

Ref Sequence

ENSEMBL: ENSMUSP00000036093 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041023
AA Change: W138R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: W138R

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: W138R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879
AA Change: W138R

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

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

Meta Mutation Damage Score

0.3842

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (46/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	A	8: 41,133,228 (GRCm39)	I232K	probably benign	Het
Ap5z1	T	C	5: 142,460,191 (GRCm39)	L506P	probably benign	Het
Atg5lrt	A	T	10: 95,972,633 (GRCm39)	I57F	possibly damaging	Het
Ceacam20	A	T	7: 19,705,429 (GRCm39)	Y140F	probably damaging	Het
Chfr	G	A	5: 110,300,258 (GRCm39)	R334H	probably damaging	Het
Emx2	A	G	19: 59,447,880 (GRCm39)	H78R	probably damaging	Het
Etnppl	G	A	3: 130,420,195 (GRCm39)	G204R	probably damaging	Het
Fah	A	G	7: 84,254,925 (GRCm39)	F3L	possibly damaging	Het
Galnt12	G	T	4: 47,091,928 (GRCm39)		probably benign	Het
Gbx1	A	G	5: 24,710,051 (GRCm39)	S265P	probably damaging	Het
Gm17087	A	G	17: 8,785,233 (GRCm39)	*157R	probably null	Het
Grin2a	T	A	16: 9,487,758 (GRCm39)	N380I	possibly damaging	Het
Grip1	C	T	10: 119,811,856 (GRCm39)	T269I		Het
Hace1	T	C	10: 45,524,956 (GRCm39)	Y241H	probably damaging	Het
Hrc	A	G	7: 44,985,722 (GRCm39)	D291G	possibly damaging	Het
Ifi208	A	G	1: 173,511,102 (GRCm39)	Y419C	probably damaging	Het
Ighv8-5	A	G	12: 115,031,267 (GRCm39)	S91P	probably damaging	Het
Igkv15-103	T	C	6: 68,414,855 (GRCm39)	L98P	probably damaging	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Kank4	A	T	4: 98,668,240 (GRCm39)	L69Q	probably damaging	Het
Kcnd3	T	C	3: 105,574,330 (GRCm39)	I505T	probably benign	Het
Lrtm2	T	A	6: 119,294,193 (GRCm39)	I313F	probably damaging	Het
Mug2	A	T	6: 122,040,648 (GRCm39)	I733F	possibly damaging	Het
Myh2	A	T	11: 67,076,300 (GRCm39)	R800S	probably damaging	Het
Myo1d	A	T	11: 80,492,571 (GRCm39)	I728N	possibly damaging	Het
Or10a3n	A	G	7: 108,493,155 (GRCm39)	I158T	probably benign	Het
Pdcd1	T	C	1: 93,969,220 (GRCm39)	R33G	probably benign	Het
Polr1b	T	C	2: 128,967,457 (GRCm39)	F950S	probably damaging	Het
Prpf8	T	A	11: 75,384,282 (GRCm39)	M697K	probably benign	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn12	A	G	5: 21,203,621 (GRCm39)	Y386H	probably damaging	Het
Rilpl2	C	T	5: 124,606,716 (GRCm39)	R166K	possibly damaging	Het
Rtn4	T	A	11: 29,656,609 (GRCm39)	N254K	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sesn3	T	A	9: 14,221,536 (GRCm39)		probably benign	Het
Slc35b2	T	A	17: 45,877,894 (GRCm39)	H291Q	probably damaging	Het
Slc38a3	A	C	9: 107,533,150 (GRCm39)	Y308D	probably damaging	Het
Snrpd2	T	C	7: 18,886,535 (GRCm39)	V106A	probably benign	Het
Sybu	C	A	15: 44,540,998 (GRCm39)	A355S	possibly damaging	Het
Tes3-ps	A	T	13: 49,647,692 (GRCm39)	R189S	probably benign	Het
Trmo	T	C	4: 46,382,604 (GRCm39)	D164G	probably damaging	Het
Vmn1r225	A	G	17: 20,722,823 (GRCm39)	Q88R	probably benign	Het
Xkr9	T	C	1: 13,742,832 (GRCm39)	V39A	probably benign	Het
Xpo1	A	T	11: 23,217,752 (GRCm39)	M73L	probably benign	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zbtb41	A	G	1: 139,350,892 (GRCm39)	K2E	probably damaging	Het
Zfp105	A	G	9: 122,759,568 (GRCm39)	K413R	possibly 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
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
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'- TCTGGTGGCTACAGAGATAGAAAC -3'
(R):5'- AGCAGTGAAGATCGTCCCAAG -3'

Sequencing Primer
(F):5'- GGAGAAACACTTAATAGATCCTTGG -3'
(R):5'- GAAGATCGTCCCAAGGCCTACTG -3'

Posted On

2021-07-15