Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Ipo9'

399737

Institutional Source

Beutler Lab

Gene Symbol

Ipo9

Ensembl Gene

ENSMUSG00000041879

Gene Name

importin 9

Synonyms

0710008K06Rik, Imp9

MMRRC Submission

042855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135310050-135358237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135313173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1019 (C1019S)

Ref Sequence

ENSEMBL: ENSMUSP00000036093 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041023
AA Change: C1019S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036093
Gene: ENSMUSG00000041879
AA Change: C1019S

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: ENSMUST00000159089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159487

Predicted Effect

probably benign
Transcript: ENSMUST00000161032

SMART Domains

Protein: ENSMUSP00000124779
Gene: ENSMUSG00000041879

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

noncoding transcript
Transcript: ENSMUST00000161258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161750

Predicted Effect

unknown
Transcript: ENSMUST00000161934
AA Change: L162Q

SMART Domains

Protein: ENSMUSP00000124210
Gene: ENSMUSG00000041879
AA Change: L162Q

Domain	Start	End	E-Value	Type
low complexity region	81	92	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162858

Meta Mutation Damage Score

0.1095

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Astn1	A	G	1: 158,440,102 (GRCm39)	K890R	probably damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cep43	T	C	17: 8,391,775 (GRCm39)	S152P	probably benign	Het
Chsy3	A	G	18: 59,542,866 (GRCm39)	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,008,348 (GRCm39)	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,444,493 (GRCm39)	P200H	probably damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,453,988 (GRCm39)	D31G	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gdf3	T	C	6: 122,583,345 (GRCm39)	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942 (GRCm38)	L199S	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,904,820 (GRCm39)	H199Q	probably benign	Het
Kyat3	A	G	3: 142,440,337 (GRCm39)	M354V	probably benign	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mslnl	T	C	17: 25,965,139 (GRCm39)	Y502H	probably benign	Het
Nckap5	A	G	1: 125,952,245 (GRCm39)	S1372P	probably damaging	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Or5au1	T	C	14: 52,273,341 (GRCm39)	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Padi4	C	T	4: 140,473,515 (GRCm39)	V641M	probably benign	Het
Phf11d	T	C	14: 59,590,160 (GRCm39)	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,458,856 (GRCm39)		probably benign	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sardh	T	C	2: 27,134,271 (GRCm39)	T82A	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Setd4	T	C	16: 93,393,221 (GRCm39)	T57A	probably damaging	Het
Skint5	T	C	4: 113,434,859 (GRCm39)	T1037A	unknown	Het
Slc18a3	T	C	14: 32,185,777 (GRCm39)	D202G	probably damaging	Het
Slc44a5	G	A	3: 153,948,760 (GRCm39)	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,579,740 (GRCm39)	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,422,483 (GRCm39)	I523V	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,749,061 (GRCm39)	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,014,149 (GRCm39)	S149P	probably benign	Het
Zfp521	G	A	18: 13,980,035 (GRCm39)	S126F	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	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
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'- AGTGTCAGTATCACTGTCCAGG -3'
(R):5'- ATGTATATCAGTTCCACGGATGTG -3'

Sequencing Primer
(F):5'- AGTATCACTGTCCAGGCCGAC -3'
(R):5'- CGGATGTGAAAACTACCCCTTAGG -3'

Posted On

2016-07-06