Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Kpna4'

557197

Institutional Source

Beutler Lab

Gene Symbol

Kpna4

Ensembl Gene

ENSMUSG00000027782

Gene Name

karyopherin subunit alpha 4

Synonyms

1110058D08Rik, importin alpha 3, IPOA3

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68979554-69034425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68997266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 336 (P336Q)

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: P336Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: P336Q

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: P234Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: P234Q

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: 99.7%
20x: 98.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	probably 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
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'- TCCAATATCATAGTGGGAGTCCAG -3'
(R):5'- CTGCATAATTGTACCCAGTGC -3'

Sequencing Primer
(F):5'- TGGGAGTCCAGAAGATATACATACAC -3'
(R):5'- GCATAATTGTACCCAGTGCTTTATG -3'

Posted On

2019-06-26