Mutagenetix > Incidental Mutation

Incidental Mutation 'R5602:Ipo9'

439055

Institutional Source

Beutler Lab

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

0710008K06Rik, Imp9

MMRRC Submission

043154-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5602 (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 135329983 bp (GRCm39)

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: 99.7%
10x: 98.6%
20x: 96.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,315,459 (GRCm39)	S73F	possibly damaging	Het
4932414N04Rik	A	T	2: 68,578,712 (GRCm39)	*753L	probably null	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam19	T	C	11: 46,027,142 (GRCm39)	S592P	probably benign	Het
Adamtsl3	A	G	7: 82,206,447 (GRCm39)	K843R	possibly damaging	Het
Ap2a2	A	T	7: 141,184,855 (GRCm39)	T213S	probably benign	Het
Asb5	A	G	8: 55,038,974 (GRCm39)	E280G	probably benign	Het
Becn1	T	C	11: 101,179,778 (GRCm39)	D403G	probably damaging	Het
Ccr7	G	T	11: 99,036,315 (GRCm39)	N202K	probably benign	Het
Cd36	T	C	5: 18,019,790 (GRCm39)	T104A	possibly damaging	Het
Cnot4	C	T	6: 35,028,464 (GRCm39)	W384*	probably null	Het
Col15a1	G	A	4: 47,312,087 (GRCm39)	V1301M	probably damaging	Het
Dock2	C	A	11: 34,204,391 (GRCm39)	A1384S	probably benign	Het
Ehbp1l1	T	C	19: 5,758,698 (GRCm39)	E1648G	possibly damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Fras1	A	G	5: 96,884,880 (GRCm39)	Y2586C	probably damaging	Het
Galm	T	A	17: 80,457,568 (GRCm39)	Y28*	probably null	Het
Ggt7	A	G	2: 155,332,919 (GRCm39)	V648A	possibly damaging	Het
Gm17067	T	A	7: 42,357,839 (GRCm39)	D221V	probably damaging	Het
Gpr3	T	C	4: 132,937,805 (GRCm39)	N289S	probably damaging	Het
Ighv11-2	A	G	12: 114,012,277 (GRCm39)		probably benign	Het
Ighv11-2	G	A	12: 114,012,099 (GRCm39)	L39F	probably damaging	Het
Jak2	T	A	19: 29,275,739 (GRCm39)	N726K	probably benign	Het
Map4	T	C	9: 109,881,768 (GRCm39)	S211P	possibly damaging	Het
Mlh1	A	T	9: 111,081,946 (GRCm39)	L259Q	probably damaging	Het
Naa25	A	G	5: 121,558,558 (GRCm39)	E300G	probably benign	Het
Or8g34	A	T	9: 39,373,326 (GRCm39)	M200L	probably benign	Het
Or8g54	T	A	9: 39,707,490 (GRCm39)	V273E	possibly damaging	Het
Parva	G	A	7: 112,166,972 (GRCm39)	V182I	probably benign	Het
Pcdhgb4	T	C	18: 37,854,697 (GRCm39)	I364T	probably damaging	Het
Pdik1l	A	G	4: 134,011,580 (GRCm39)	S164P	probably damaging	Het
Pfas	A	T	11: 68,881,871 (GRCm39)	I938N	probably benign	Het
Plscr1l1	G	A	9: 92,234,721 (GRCm39)	C152Y	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prob1	C	T	18: 35,787,079 (GRCm39)	V392M	possibly damaging	Het
Rasgrf1	T	C	9: 89,793,624 (GRCm39)	S134P	possibly damaging	Het
Rorb	T	A	19: 18,955,301 (GRCm39)	Y20F	probably damaging	Het
Rsph9	G	T	17: 46,445,909 (GRCm39)	D220E	probably damaging	Het
Safb2	C	A	17: 56,882,630 (GRCm39)	K334N	possibly damaging	Het
Sall3	T	C	18: 81,016,027 (GRCm39)	T634A	probably benign	Het
Scaf1	A	G	7: 44,657,007 (GRCm39)		probably benign	Het
Slco1a5	T	A	6: 142,221,255 (GRCm39)		probably benign	Het
Spata21	C	T	4: 140,824,210 (GRCm39)	R158C	probably benign	Het
Srrm2	G	A	17: 24,038,311 (GRCm39)		probably benign	Het
Stk38l	C	A	6: 146,659,998 (GRCm39)	T10N	probably benign	Het
Supv3l1	G	A	10: 62,266,371 (GRCm39)	P602S	possibly damaging	Het
Timm44	C	T	8: 4,316,769 (GRCm39)		probably null	Het
Tll2	T	A	19: 41,093,420 (GRCm39)	R465S	possibly damaging	Het
Tmem104	G	A	11: 115,095,950 (GRCm39)	A164T	probably damaging	Het
Tmem151b	A	G	17: 45,856,526 (GRCm39)	S305P	probably damaging	Het
Utrn	T	C	10: 12,625,839 (GRCm39)	D114G	probably damaging	Het
Vmn2r109	A	T	17: 20,760,933 (GRCm39)	M808K	possibly damaging	Het
Washc2	T	A	6: 116,225,056 (GRCm39)	D801E	possibly damaging	Het
Xkr4	T	C	1: 3,286,751 (GRCm39)	I480V	probably benign	Het
Zfp507	G	T	7: 35,475,663 (GRCm39)	S58*	probably null	Het
Zfp768	T	A	7: 126,943,804 (GRCm39)	D108V	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
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'- TCAAAGGACTAGGCAGGGGTAAT -3'
(R):5'- GAAATACTGACAAATGATTTGGGATC -3'

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

Posted On

2016-10-26