Mutagenetix > Incidental Mutation

Incidental Mutation 'R7106:Kpna4'

551158

Institutional Source

Beutler Lab

Gene Symbol

Kpna4

Ensembl Gene

ENSMUSG00000027782

Gene Name

karyopherin subunit alpha 4

Synonyms

1110058D08Rik, importin alpha 3, IPOA3

MMRRC Submission

045198-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68979554-69034425 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 68986797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 531 (Q531*)

Ref Sequence

ENSEMBL: ENSMUSP00000029353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000194558]

AlphaFold

O35343

Predicted Effect

probably null
Transcript: ENSMUST00000029353
AA Change: Q531*

SMART Domains

Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: Q531*

Domain	Start	End	E-Value	Type
Pfam:IBB	7	93	2.4e-25	PFAM
ARM	103	144	7.73e-11	SMART
ARM	146	186	3.81e-10	SMART
ARM	188	229	2.04e1	SMART
ARM	232	271	4.15e-2	SMART
ARM	273	313	4.69e-10	SMART
ARM	315	355	9.6e-7	SMART
ARM	357	397	1.85e-8	SMART
ARM	400	440	9.45e-6	SMART
Pfam:Arm_3	447	499	4.1e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000194558
AA Change: Q429*

SMART Domains

Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: Q429*

Domain	Start	End	E-Value	Type
Pfam:IBB	3	94	2.2e-27	PFAM
ARM	103	144	7.73e-11	SMART
ARM	146	186	3.81e-10	SMART
ARM	188	229	2.04e1	SMART
ARM	232	271	4.15e-2	SMART
ARM	273	313	4.69e-10	SMART
ARM	315	355	9.6e-7	SMART
ARM	357	397	1.85e-8	SMART
ARM	400	440	9.45e-6	SMART
low complexity region	479	493	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258 (GRCm39)	Y138C	probably damaging	Het
Ano7	A	C	1: 93,302,705 (GRCm39)		probably null	Het
Arvcf	T	A	16: 18,217,799 (GRCm39)	V497E	probably damaging	Het
Atad2	A	G	15: 57,980,162 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,747,615 (GRCm39)	A163T	probably benign	Het
Catsperd	C	A	17: 56,965,070 (GRCm39)		probably null	Het
Ccm2l	A	G	2: 152,912,571 (GRCm39)	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,633,015 (GRCm39)	T112I	probably benign	Het
Chid1	T	C	7: 141,102,573 (GRCm39)	H220R	probably benign	Het
Clca3a1	A	G	3: 144,733,190 (GRCm39)	V106A	probably damaging	Het
Cldn23	A	C	8: 36,293,069 (GRCm39)	S140A	probably benign	Het
Dennd2c	T	C	3: 103,038,893 (GRCm39)	S14P	possibly damaging	Het
Det1	T	C	7: 78,493,212 (GRCm39)	D264G	probably damaging	Het
Dmwd	T	C	7: 18,814,454 (GRCm39)	V368A	probably damaging	Het
Dnah11	T	C	12: 117,924,884 (GRCm39)	K3362E	probably benign	Het
Dnah8	T	C	17: 30,960,152 (GRCm39)	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,523,798 (GRCm39)	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,947,591 (GRCm39)	K482E	probably damaging	Het
Dock7	A	G	4: 98,855,563 (GRCm39)	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,768,765 (GRCm39)	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,595,944 (GRCm39)	L534*	probably null	Het
Fgfr3	T	C	5: 33,888,758 (GRCm39)	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,948,509 (GRCm39)	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,305,514 (GRCm39)	H250N	probably benign	Het
Guca1b	A	T	17: 47,702,236 (GRCm39)	K230*	probably null	Het
Itga3	G	T	11: 94,946,699 (GRCm39)	L737I	probably benign	Het
Kmt5c	A	G	7: 4,745,705 (GRCm39)	K122E	probably damaging	Het
Lctl	A	G	9: 64,040,119 (GRCm39)	E410G	probably benign	Het
Lhx1	T	C	11: 84,412,903 (GRCm39)	N128D	probably benign	Het
Lifr	A	G	15: 7,202,405 (GRCm39)	N349D	probably benign	Het
Map2	G	A	1: 66,449,903 (GRCm39)	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,502,737 (GRCm39)	A25V	probably damaging	Het
Mug2	T	C	6: 122,059,680 (GRCm39)	S1353P	probably damaging	Het
Myh9	A	G	15: 77,659,321 (GRCm39)	C931R	probably benign	Het
Nelfe	T	G	17: 35,071,395 (GRCm39)		probably null	Het
Nrf1	A	G	6: 30,102,183 (GRCm39)	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,017,368 (GRCm39)	Q130*	probably null	Het
Prex2	T	A	1: 11,207,017 (GRCm39)	M525K	probably benign	Het
Psme2	A	G	14: 55,825,694 (GRCm39)	S165P	probably benign	Het
Rapgef2	A	G	3: 78,973,915 (GRCm39)	F1477S	probably benign	Het
Rasef	A	T	4: 73,645,864 (GRCm39)	C502S	probably damaging	Het
Rpap2	T	A	5: 107,780,988 (GRCm39)	L565*	probably null	Het
Sav1	A	G	12: 70,031,390 (GRCm39)	I44T	probably damaging	Het
Selp	T	A	1: 163,953,991 (GRCm39)	I97N	probably benign	Het
Serpina1d	A	G	12: 103,731,980 (GRCm39)	F293S	probably benign	Het
Sin3b	T	C	8: 73,450,765 (GRCm39)	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,694,402 (GRCm39)	G559R	probably damaging	Het
Susd2	A	T	10: 75,473,887 (GRCm39)	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,389,360 (GRCm39)	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,137,897 (GRCm39)	I181N	possibly damaging	Het
Tcea3	A	G	4: 135,998,679 (GRCm39)	T318A	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Tpp1	A	C	7: 105,399,118 (GRCm39)	S153A	possibly damaging	Het
Trip13	C	T	13: 74,062,651 (GRCm39)	V387I	probably benign	Het
Ttn	T	C	2: 76,627,832 (GRCm39)	I14704V	probably benign	Het
Uimc1	C	A	13: 55,198,628 (GRCm39)	C516F	possibly damaging	Het
Vit	A	G	17: 78,894,228 (GRCm39)	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,877,296 (GRCm39)	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,399,104 (GRCm39)	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het
Zfp384	T	C	6: 125,001,222 (GRCm39)	L98P	probably benign	Het
Zfp809	G	T	9: 22,147,520 (GRCm39)	K51N	probably benign	Het

Other mutations in Kpna4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Kpna4	APN	3	69,009,590 (GRCm39)	splice site	probably benign
IGL01642:Kpna4	APN	3	68,993,117 (GRCm39)	missense	probably damaging	0.99
IGL02752:Kpna4	APN	3	69,002,863 (GRCm39)	nonsense	probably null
R0702:Kpna4	UTSW	3	68,991,438 (GRCm39)	missense	probably damaging	1.00
R0865:Kpna4	UTSW	3	69,008,750 (GRCm39)	missense	probably damaging	1.00
R0919:Kpna4	UTSW	3	68,993,161 (GRCm39)	splice site	probably benign
R5135:Kpna4	UTSW	3	69,000,142 (GRCm39)	critical splice donor site	probably null
R5955:Kpna4	UTSW	3	68,997,134 (GRCm39)	missense	probably benign	0.05
R6008:Kpna4	UTSW	3	69,034,066 (GRCm39)	missense	probably null	0.81
R7153:Kpna4	UTSW	3	68,997,131 (GRCm39)	missense	probably damaging	1.00
R7155:Kpna4	UTSW	3	68,997,266 (GRCm39)	missense	probably damaging	1.00
R7294:Kpna4	UTSW	3	68,999,956 (GRCm39)	splice site	probably null
R7456:Kpna4	UTSW	3	69,000,181 (GRCm39)	missense	probably damaging	1.00
R8961:Kpna4	UTSW	3	68,986,821 (GRCm39)	missense	probably benign	0.05
R9057:Kpna4	UTSW	3	69,002,018 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTAAACGGCTGTACACATAG -3'
(R):5'- GTCTAACATGGGAGAGATGAGTTCATG -3'

Sequencing Primer
(F):5'- GGCTGTACACATAGAATATAGTAT -3'
(R):5'- TGAGTTCATGTTTTCATAGTCAGAG -3'

Posted On

2019-05-15