Mutagenetix > Incidental Mutation

Incidental Mutation 'R7294:Kpna4'

591008

Institutional Source

Beutler Lab

Gene Symbol

Kpna4

Ensembl Gene

ENSMUSG00000027782

Gene Name

karyopherin subunit alpha 4

Synonyms

1110058D08Rik, importin alpha 3, IPOA3

MMRRC Submission

045399-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7294 (G1)

Quality Score

51.0072

Status

Validated

Chromosome

Chromosomal Location

68979554-69034425 bp(-) (GRCm39)

Type of Mutation

splice site (187 bp from exon)

DNA Base Change (assembly)

A to C at 68999956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000127497] [ENSMUST00000194558]

AlphaFold

O35343

Predicted Effect

probably null
Transcript: ENSMUST00000029353

SMART Domains

Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782

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 benign
Transcript: ENSMUST00000127497

SMART Domains

Protein: ENSMUSP00000121076
Gene: ENSMUSG00000027782

Domain	Start	End	E-Value	Type
Pfam:IBB	1	70	5.4e-21	PFAM
Pfam:Arm	79	112	5.4e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000194558

SMART Domains

Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (49/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,650,541 (GRCm39)	Y1216*	probably null	Het
Abca17	G	A	17: 24,539,983 (GRCm39)	T415M	not run	Het
Adam1a	G	T	5: 121,658,068 (GRCm39)	C408*	probably null	Het
Adamts9	G	A	6: 92,871,270 (GRCm39)	T603M	probably damaging	Het
Amdhd1	T	C	10: 93,370,301 (GRCm39)	E179G	probably benign	Het
Bcan	T	C	3: 87,902,831 (GRCm39)	T316A	possibly damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C5ar1	T	C	7: 15,982,950 (GRCm39)	I23M	probably benign	Het
Cd109	A	T	9: 78,619,917 (GRCm39)	E1386D	probably damaging	Het
Cdcp1	C	T	9: 123,006,986 (GRCm39)	C587Y	probably benign	Het
Cdh22	A	C	2: 164,984,013 (GRCm39)	V413G	possibly damaging	Het
Cfap44	A	G	16: 44,225,256 (GRCm39)		probably benign	Het
Col2a1	A	G	15: 97,885,168 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,756,005 (GRCm39)	Y95N	probably damaging	Het
Dusp13b	A	G	14: 21,783,782 (GRCm39)	S178P	possibly damaging	Het
Fhod3	A	G	18: 25,266,037 (GRCm39)	E1575G	probably damaging	Het
Gfpt2	C	T	11: 49,709,435 (GRCm39)	R209*	probably null	Het
Heg1	T	C	16: 33,546,859 (GRCm39)	S573P	probably damaging	Het
Hinfp	A	G	9: 44,210,567 (GRCm39)	C152R	probably damaging	Het
Hmgcs2	C	T	3: 98,198,211 (GRCm39)	T38I	probably benign	Het
Jakmip1	T	C	5: 37,274,804 (GRCm39)	F441L	possibly damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Krt15	T	A	11: 100,022,848 (GRCm39)	I456F	possibly damaging	Het
Leprotl1	A	T	8: 34,606,006 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,835 (GRCm39)	T42S	possibly damaging	Het
Naa80	T	G	9: 107,460,182 (GRCm39)	F26V	possibly damaging	Het
Nr1h5	T	C	3: 102,852,578 (GRCm39)	T419A	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or4c12	A	C	2: 89,774,068 (GRCm39)	Y130*	probably null	Het
Or52b3	T	A	7: 102,204,160 (GRCm39)	I223N	probably damaging	Het
Pax6	T	A	2: 105,515,246 (GRCm39)	C66*	probably null	Het
Pde10a	A	T	17: 8,975,853 (GRCm39)	N53Y	probably benign	Het
Pdgfra	A	G	5: 75,342,312 (GRCm39)	N711S	probably benign	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Slc26a1	G	T	5: 108,821,698 (GRCm39)	R80S	possibly damaging	Het
Slc2a4	T	C	11: 69,836,225 (GRCm39)	D262G	probably benign	Het
Specc1	T	A	11: 62,009,163 (GRCm39)	S226R	probably benign	Het
Srsf4	A	G	4: 131,627,772 (GRCm39)	S289G	unknown	Het
Stil	T	C	4: 114,864,480 (GRCm39)	V127A	probably benign	Het
Syne1	A	T	10: 5,047,483 (GRCm39)		probably null	Het
Tbc1d22a	T	A	15: 86,196,036 (GRCm39)	Y336N	possibly damaging	Het
Tbc1d8	C	T	1: 39,445,843 (GRCm39)	G116E	probably damaging	Het
Thrb	A	G	14: 17,826,963 (GRCm38)		probably benign	Het
Timd5	T	A	11: 46,426,439 (GRCm39)	I182K	probably benign	Het
Tln1	G	T	4: 43,534,399 (GRCm39)	H2253Q	probably benign	Het
Tmem131	A	C	1: 36,893,928 (GRCm39)	N158K	possibly damaging	Het
Toporsl	A	C	4: 52,611,903 (GRCm39)	T599P	probably benign	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Triobp	C	T	15: 78,858,176 (GRCm39)	A1259V	probably damaging	Het
Zfp40	A	G	17: 23,395,411 (GRCm39)	I392T	possibly damaging	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
R7106:Kpna4	UTSW	3	68,986,797 (GRCm39)	nonsense	probably null
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
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'- AAGGGCAAAGGTCATGATAATGTTC -3'
(R):5'- TATGGGCGTTGGGAAACATC -3'

Sequencing Primer
(F):5'- AGACTGCTCAAGTATGCt -3'
(R):5'- CGTTGGGAAACATCATAGGTTTG -3'

Posted On

2019-11-04