Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Kpna6'

187095

Institutional Source

Beutler Lab

Gene Symbol

Kpna6

Ensembl Gene

ENSMUSG00000003731

Gene Name

karyopherin subunit alpha 6

Synonyms

NPI-2, IPOA7, importin alpha 7

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129537773-129566560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129551264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 80 (R80S)

Ref Sequence

ENSEMBL: ENSMUSP00000114265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003828] [ENSMUST00000102590] [ENSMUST00000126010]

AlphaFold

O35345

Predicted Effect

probably benign
Transcript: ENSMUST00000003828
AA Change: R80S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: R80S

Domain	Start	End	E-Value	Type
Pfam:IBB	2	100	9.5e-28	PFAM
ARM	109	151	2.46e-4	SMART
ARM	153	193	6.73e-11	SMART
ARM	195	236	3.19e-3	SMART
ARM	239	278	6.64e-1	SMART
ARM	280	320	1.16e-5	SMART
ARM	322	362	1.98e-8	SMART
ARM	364	404	6.68e-6	SMART
ARM	407	447	1.89e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102590
AA Change: R83S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: R83S

Domain	Start	End	E-Value	Type
Pfam:IBB	9	102	4.4e-27	PFAM
ARM	112	154	2.46e-4	SMART
ARM	156	196	6.73e-11	SMART
ARM	198	239	3.19e-3	SMART
ARM	242	281	6.64e-1	SMART
ARM	283	323	1.16e-5	SMART
ARM	325	365	1.98e-8	SMART
ARM	367	407	6.68e-6	SMART
ARM	410	450	1.89e-5	SMART
Pfam:Arm_3	464	514	5.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126010
AA Change: R80S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731
AA Change: R80S

Domain	Start	End	E-Value	Type
Pfam:IBB	2	88	3.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146361

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null mutation are infertile and show a block in zygotic genome activation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Afg1l	T	A	10: 42,302,573 (GRCm39)	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,704,825 (GRCm39)	I18V	probably benign	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Bsg	T	G	10: 79,547,352 (GRCm39)	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,228,072 (GRCm39)	V83E	probably benign	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Ces2a	G	A	8: 105,464,187 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Csmd3	T	C	15: 47,560,185 (GRCm39)	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dab2ip	T	A	2: 35,610,290 (GRCm39)	M770K	probably damaging	Het
Dct	T	A	14: 118,271,663 (GRCm39)	D389V	probably damaging	Het
Dnah17	A	T	11: 118,012,321 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Efcab3	A	G	11: 104,611,940 (GRCm39)	K594R	probably benign	Het
Ehmt1	A	G	2: 24,767,476 (GRCm39)	S272P	probably damaging	Het
Ero1b	T	C	13: 12,594,142 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Foxb1	G	A	9: 69,667,104 (GRCm39)	A142V	probably damaging	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
H1f7	G	T	15: 98,154,796 (GRCm39)	Q118K	probably benign	Het
Hdac7	A	G	15: 97,704,406 (GRCm39)	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Mllt10	A	T	2: 18,213,601 (GRCm39)	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,024,045 (GRCm39)	W417R	probably damaging	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or13a26	G	T	7: 140,284,707 (GRCm39)	C181F	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or4k39	T	C	2: 111,239,098 (GRCm39)	Y113H	probably damaging	Het
Or5b121	A	T	19: 13,507,202 (GRCm39)	H99L	probably damaging	Het
Or8c10	C	T	9: 38,278,862 (GRCm39)	H7Y	probably benign	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Pi15	G	T	1: 17,691,726 (GRCm39)	C176F	probably damaging	Het
Pou2f2	T	A	7: 24,792,149 (GRCm39)	T569S	possibly damaging	Het
Prf1	A	C	10: 61,138,666 (GRCm39)	E208A	probably benign	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ripk3	T	A	14: 56,023,808 (GRCm39)	H1L	probably benign	Het
Ryr1	C	T	7: 28,735,503 (GRCm39)	D4064N	probably damaging	Het
Sec63	T	A	10: 42,674,724 (GRCm39)		probably null	Het
Slco1a4	T	G	6: 141,785,303 (GRCm39)	M96L	possibly damaging	Het
Slit3	A	T	11: 35,125,733 (GRCm39)	R137S	possibly damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Steap1	A	T	5: 5,786,498 (GRCm39)	L313Q	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tm6sf2	G	T	8: 70,531,580 (GRCm39)		probably benign	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Ttn	C	A	2: 76,661,200 (GRCm39)		probably benign	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,163,505 (GRCm39)	M575V	unknown	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het
Zic5	A	G	14: 122,696,939 (GRCm39)	S559P	unknown	Het

Other mutations in Kpna6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Kpna6	APN	4	129,549,276 (GRCm39)	missense	probably damaging	1.00
IGL02750:Kpna6	APN	4	129,555,170 (GRCm39)	missense	probably damaging	1.00
IGL02904:Kpna6	APN	4	129,544,480 (GRCm39)	missense	probably benign	0.24
IGL02998:Kpna6	APN	4	129,549,297 (GRCm39)	missense	probably benign	0.00
IGL03370:Kpna6	APN	4	129,549,314 (GRCm39)	missense	probably damaging	1.00
krazy_eight	UTSW	4	129,549,221 (GRCm39)	critical splice donor site	probably null
magnificent_seven	UTSW	4	129,543,099 (GRCm39)	nonsense	probably null
R0054:Kpna6	UTSW	4	129,551,251 (GRCm39)	missense	probably benign	0.01
R0054:Kpna6	UTSW	4	129,551,251 (GRCm39)	missense	probably benign	0.01
R0305:Kpna6	UTSW	4	129,543,042 (GRCm39)	missense	probably benign	0.00
R0390:Kpna6	UTSW	4	129,551,597 (GRCm39)	missense	possibly damaging	0.61
R0623:Kpna6	UTSW	4	129,549,209 (GRCm39)	unclassified	probably benign
R0646:Kpna6	UTSW	4	129,544,583 (GRCm39)	missense	probably benign	0.43
R1067:Kpna6	UTSW	4	129,541,896 (GRCm39)	missense	probably benign	0.39
R1348:Kpna6	UTSW	4	129,555,152 (GRCm39)	nonsense	probably null
R1661:Kpna6	UTSW	4	129,551,264 (GRCm39)	missense	probably benign	0.10
R1766:Kpna6	UTSW	4	129,551,235 (GRCm39)	missense	probably benign	0.33
R4833:Kpna6	UTSW	4	129,551,572 (GRCm39)	missense	possibly damaging	0.51
R4941:Kpna6	UTSW	4	129,541,825 (GRCm39)	missense	probably damaging	1.00
R4974:Kpna6	UTSW	4	129,550,198 (GRCm39)	splice site	probably null
R5244:Kpna6	UTSW	4	129,549,221 (GRCm39)	critical splice donor site	probably null
R5914:Kpna6	UTSW	4	129,566,485 (GRCm39)	unclassified	probably benign
R6148:Kpna6	UTSW	4	129,543,099 (GRCm39)	nonsense	probably null
R6713:Kpna6	UTSW	4	129,547,777 (GRCm39)	missense	probably damaging	1.00
R6799:Kpna6	UTSW	4	129,551,247 (GRCm39)	missense	probably damaging	0.99
R6942:Kpna6	UTSW	4	129,545,514 (GRCm39)	splice site	probably null
R7073:Kpna6	UTSW	4	129,548,139 (GRCm39)	missense	probably damaging	1.00
R7794:Kpna6	UTSW	4	129,541,844 (GRCm39)	missense	probably benign
R7815:Kpna6	UTSW	4	129,551,590 (GRCm39)	missense	probably benign
R8290:Kpna6	UTSW	4	129,555,097 (GRCm39)	critical splice donor site	probably null
R9360:Kpna6	UTSW	4	129,547,635 (GRCm39)	missense	probably benign	0.00
Z1176:Kpna6	UTSW	4	129,549,341 (GRCm39)	missense	probably damaging	1.00
Z1176:Kpna6	UTSW	4	129,541,871 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCCAGCAAGGTAGGATGAGCAAT -3'
(R):5'- GAAGTCAGATGGGAAGCTCTTCTGTG -3'

Sequencing Primer
(F):5'- tggggggagggtataggg -3'
(R):5'- TTCTGTGGACAATCCACCAG -3'

Posted On

2014-05-09