Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:Kpna4'

554242

Institutional Source

Beutler Lab

Gene Symbol

Kpna4

Ensembl Gene

ENSMUSG00000027782

Gene Name

karyopherin subunit alpha 4

Synonyms

1110058D08Rik, importin alpha 3, IPOA3

MMRRC Submission

045255-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68979554-69034425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68997131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 352 (L352S)

Ref Sequence

ENSEMBL: ENSMUSP00000029353 (fasta)

Gene Model

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

AlphaFold

O35343

Predicted Effect

probably damaging
Transcript: ENSMUST00000029353
AA Change: L352S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: L352S

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 damaging
Transcript: ENSMUST00000194558
AA Change: L250S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: L250S

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% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,969,906 (GRCm39)	T741A	possibly damaging	Het
Aox4	T	C	1: 58,289,378 (GRCm39)	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,649,691 (GRCm39)	S27I	probably benign	Het
AU018091	T	A	7: 3,209,353 (GRCm39)	M296L	probably benign	Het
Axin1	A	G	17: 26,406,942 (GRCm39)	T512A	probably benign	Het
B4galnt3	A	T	6: 120,191,929 (GRCm39)	D602E	probably benign	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bsnd	A	T	4: 106,349,230 (GRCm39)	D3E	probably benign	Het
Btbd18	C	T	2: 84,496,772 (GRCm39)	R137*	probably null	Het
C2cd5	A	G	6: 142,965,135 (GRCm39)	S871P	probably benign	Het
Cobl	G	T	11: 12,204,128 (GRCm39)	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,546,175 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,677,420 (GRCm39)	H304L	probably benign	Het
Crybg1	T	A	10: 43,840,662 (GRCm39)	Y1812F	possibly damaging	Het
Ddx60	A	T	8: 62,441,142 (GRCm39)	K1070N	possibly damaging	Het
Defb22	T	C	2: 152,327,840 (GRCm39)	K115R	unknown	Het
Dhx8	C	T	11: 101,631,001 (GRCm39)		probably null	Het
Dnah5	T	A	15: 28,365,668 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,165,964 (GRCm39)	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,585,071 (GRCm39)	F270S	probably damaging	Het
Esyt2	A	G	12: 116,310,128 (GRCm39)	M397V	probably benign	Het
Fanca	A	T	8: 124,043,164 (GRCm39)	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,367,346 (GRCm39)	V676F	probably benign	Het
Fndc1	A	G	17: 8,020,477 (GRCm39)	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,332,451 (GRCm39)	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,411,463 (GRCm39)	H225R	probably benign	Het
Helz2	A	T	2: 180,873,078 (GRCm39)	S2411T	probably benign	Het
Hnmt	C	T	2: 23,904,353 (GRCm39)	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,528,210 (GRCm39)	Y114*	probably null	Het
Irak2	A	G	6: 113,655,670 (GRCm39)	H357R	probably benign	Het
Kcp	T	C	6: 29,499,014 (GRCm39)	E320G	probably damaging	Het
Krt36	G	A	11: 99,995,972 (GRCm39)	Q151*	probably null	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lca5l	T	A	16: 95,975,009 (GRCm39)	N305I	probably damaging	Het
Lefty1	T	A	1: 180,765,332 (GRCm39)	L300Q	probably benign	Het
Mertk	A	G	2: 128,578,569 (GRCm39)	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,673,708 (GRCm39)	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,754,098 (GRCm39)	E95G	possibly damaging	Het
Npc1	A	G	18: 12,346,348 (GRCm39)	F283L	possibly damaging	Het
Or4k38	A	T	2: 111,166,246 (GRCm39)	M59K	probably damaging	Het
Or4p19	A	C	2: 88,242,462 (GRCm39)	L180W	probably damaging	Het
Pcdha11	T	C	18: 37,144,278 (GRCm39)	V123A	probably damaging	Het
Pcdhga2	T	C	18: 37,802,261 (GRCm39)	V35A	probably damaging	Het
Pgd	G	T	4: 149,246,135 (GRCm39)	T94K	probably benign	Het
Pik3c2a	T	C	7: 115,941,487 (GRCm39)	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,935,452 (GRCm39)		probably null	Het
Prkd3	C	T	17: 79,273,784 (GRCm39)	D491N	probably benign	Het
Ptprf	T	C	4: 118,088,740 (GRCm39)	T688A	probably damaging	Het
Pycr2	T	A	1: 180,734,247 (GRCm39)	L210M	probably damaging	Het
Rpl36	T	C	17: 56,921,137 (GRCm39)	I81T	probably benign	Het
Rraga	C	T	4: 86,494,253 (GRCm39)	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,896,688 (GRCm39)	A429V	probably damaging	Het
Stab1	T	G	14: 30,882,541 (GRCm39)	E432A	probably benign	Het
Synj1	C	T	16: 90,744,978 (GRCm39)	G1189R	probably benign	Het
Synpo2	A	G	3: 122,906,053 (GRCm39)	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,270,376 (GRCm39)	D133G	probably damaging	Het
Tenm2	A	G	11: 35,915,009 (GRCm39)	V2176A	probably damaging	Het
Tff1	A	G	17: 31,381,772 (GRCm39)	I35T	probably benign	Het
Thnsl1	T	C	2: 21,217,764 (GRCm39)	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,290,087 (GRCm39)	Q50R	unknown	Het
Tjp2	A	T	19: 24,079,345 (GRCm39)	N843K	probably benign	Het
Tle1	A	T	4: 72,057,298 (GRCm39)	F101I	probably benign	Het
Tmem225	T	C	9: 40,059,664 (GRCm39)	F15L	probably benign	Het
Trav12-3	T	C	14: 53,859,618 (GRCm39)	L88P	probably benign	Het
Ttc7b	A	T	12: 100,321,293 (GRCm39)	W613R	probably damaging	Het
Ttn	T	A	2: 76,608,848 (GRCm39)	M17723L	probably benign	Het
Ttn	T	C	2: 76,775,660 (GRCm39)	D1840G	unknown	Het
Tubgcp2	T	C	7: 139,580,949 (GRCm39)	H668R	probably benign	Het
Ush2a	C	A	1: 188,460,681 (GRCm39)	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,210,851 (GRCm39)	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Ywhab	T	C	2: 163,855,980 (GRCm39)	F119L	probably damaging	Het
Zmym2	T	A	14: 57,187,659 (GRCm39)	D1108E	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
R7106:Kpna4	UTSW	3	68,986,797 (GRCm39)	nonsense	probably null
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'- TTTGACTCCTCACTGAAGCTACAG -3'
(R):5'- AAGAAATGTTACCTGGGTTATGGTC -3'

Sequencing Primer
(F):5'- CTCACTGAAGCTACAGAAACAGAGG -3'
(R):5'- GGTCAATTTATGTCGCCACAAAGAC -3'

Posted On

2019-05-15