Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Kpna7'

44513

Institutional Source

Beutler Lab

Gene Symbol

Kpna7

Ensembl Gene

ENSMUSG00000038770

Gene Name

karyopherin subunit alpha 7

Synonyms

LOC381686, importin alpha 2

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R0027 (G1) of strain 730

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

144920537-144946446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144926507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 482 (Y482N)

Ref Sequence

ENSEMBL: ENSMUSP00000112155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110672] [ENSMUST00000110673] [ENSMUST00000116454]

AlphaFold

C0LLJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000110672
AA Change: Y482N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: Y482N

Domain	Start	End	E-Value	Type
Pfam:IBB	2	91	1.7e-14	PFAM
ARM	100	141	1.4e-8	SMART
ARM	143	183	6.18e-10	SMART
ARM	185	226	1.78e-1	SMART
ARM	229	268	4.28e-4	SMART
ARM	270	310	1.19e-2	SMART
ARM	312	352	5.27e-4	SMART
ARM	354	393	2.85e0	SMART
ARM	396	436	8.17e-1	SMART
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110673
AA Change: Y503N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: Y503N

Domain	Start	End	E-Value	Type
Pfam:IBB	6	90	2.7e-19	PFAM
ARM	100	141	1.4e-8	SMART
ARM	143	183	3.31e-10	SMART
ARM	206	247	1.78e-1	SMART
ARM	250	289	4.28e-4	SMART
ARM	291	331	1.19e-2	SMART
ARM	333	373	5.27e-4	SMART
ARM	375	414	2.85e0	SMART
ARM	417	457	8.17e-1	SMART
Pfam:Arm_3	466	517	8.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116454
AA Change: Y482N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: Y482N

Domain	Start	End	E-Value	Type
Pfam:IBB	2	91	1.7e-14	PFAM
ARM	100	141	1.4e-8	SMART
ARM	143	183	6.18e-10	SMART
ARM	185	226	1.78e-1	SMART
ARM	229	268	4.28e-4	SMART
ARM	270	310	1.19e-2	SMART
ARM	312	352	5.27e-4	SMART
ARM	354	393	2.85e0	SMART
ARM	396	436	8.17e-1	SMART
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142866

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display smaller litter sizes with preferential loss of females and accelerated cell cycles post fertilization resulting in loss of embryos. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,581,385 (GRCm39)	H79Q	probably benign	Het
Caprin1	A	T	2: 103,605,925 (GRCm39)		probably benign	Het
Carmil3	T	A	14: 55,731,860 (GRCm39)	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810 (GRCm39)	H961R	probably benign	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,685,940 (GRCm39)	L684P	unknown	Het
D430041D05Rik	A	T	2: 104,085,389 (GRCm39)	F1053L	probably benign	Het
Dab1	T	C	4: 104,561,396 (GRCm39)		probably benign	Het
Dmxl1	A	T	18: 50,090,362 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eml1	T	C	12: 108,502,557 (GRCm39)	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,295,182 (GRCm39)	M304L	probably benign	Het
Foxk1	A	T	5: 142,436,095 (GRCm39)	I321F	probably damaging	Het
Gm10306	C	T	4: 94,445,027 (GRCm39)		probably benign	Het
Gm10985	TA	TANA	3: 53,752,677 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,293,285 (GRCm39)		probably benign	Het
Hcn3	A	G	3: 89,067,132 (GRCm39)	S79P	probably damaging	Het
Hspa4	T	A	11: 53,174,412 (GRCm39)	M203L	probably benign	Het
Ints15	G	A	5: 143,293,817 (GRCm39)	T220I	probably damaging	Het
Kctd7	G	A	5: 130,181,414 (GRCm39)	R279H	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Klf13	T	C	7: 63,541,509 (GRCm39)	N206S	probably benign	Het
Lamc1	T	C	1: 153,138,329 (GRCm39)	Y175C	probably damaging	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Madd	T	A	2: 90,982,894 (GRCm39)	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,465,162 (GRCm39)	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,325,447 (GRCm39)	T742A	probably damaging	Het
Nopchap1	G	A	10: 83,200,393 (GRCm39)		probably benign	Het
Or6d14	T	C	6: 116,533,910 (GRCm39)	S175P	probably damaging	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prl6a1	T	A	13: 27,502,011 (GRCm39)	L126Q	probably damaging	Het
Prr29	A	G	11: 106,267,102 (GRCm39)	E89G	possibly damaging	Het
Psmd1	T	C	1: 86,021,987 (GRCm39)		probably benign	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,430,398 (GRCm39)	V939A	probably benign	Het
Rnf135	T	A	11: 80,084,768 (GRCm39)	S180R	probably benign	Het
Sarm1	C	A	11: 78,378,917 (GRCm39)	R376L	probably damaging	Het
Scap	C	A	9: 110,208,798 (GRCm39)	P613Q	probably benign	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Setx	T	G	2: 29,029,233 (GRCm39)	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Sox21	G	T	14: 118,473,029 (GRCm39)	H7N	probably benign	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Sycp1	A	G	3: 102,803,226 (GRCm39)	V528A	probably benign	Het
Tcl1b3	A	T	12: 105,157,498 (GRCm39)	S47C	probably damaging	Het
Treml4	T	C	17: 48,571,962 (GRCm39)	S122P	possibly damaging	Het
Trip11	C	T	12: 101,851,428 (GRCm39)	A879T	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het
Zan	T	C	5: 137,404,781 (GRCm39)		probably benign	Het
Zfp804a	G	A	2: 82,087,544 (GRCm39)	D458N	probably damaging	Het
Zic2	T	C	14: 122,713,755 (GRCm39)	M223T	possibly damaging	Het

Other mutations in Kpna7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Kpna7	APN	5	144,944,056 (GRCm39)	missense	probably damaging	1.00
IGL01505:Kpna7	APN	5	144,929,661 (GRCm39)	missense	probably damaging	1.00
IGL02009:Kpna7	APN	5	144,930,888 (GRCm39)	critical splice acceptor site	probably null
IGL02365:Kpna7	APN	5	144,922,543 (GRCm39)	missense	possibly damaging	0.49
IGL02947:Kpna7	APN	5	144,930,884 (GRCm39)	missense	probably damaging	1.00
IGL03195:Kpna7	APN	5	144,933,847 (GRCm39)	missense	probably damaging	1.00
IGL03236:Kpna7	APN	5	144,922,504 (GRCm39)	missense	unknown
IGL03333:Kpna7	APN	5	144,942,765 (GRCm39)	missense	possibly damaging	0.48
PIT4515001:Kpna7	UTSW	5	144,941,862 (GRCm39)	missense	probably benign	0.17
R0421:Kpna7	UTSW	5	144,926,551 (GRCm39)	missense	possibly damaging	0.82
R0463:Kpna7	UTSW	5	144,944,804 (GRCm39)	missense	possibly damaging	0.66
R2229:Kpna7	UTSW	5	144,926,507 (GRCm39)	missense	probably damaging	0.99
R2871:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R2871:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R2873:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R2874:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R4079:Kpna7	UTSW	5	144,942,737 (GRCm39)	missense	possibly damaging	0.82
R5841:Kpna7	UTSW	5	144,930,766 (GRCm39)	missense	possibly damaging	0.73
R5888:Kpna7	UTSW	5	144,926,605 (GRCm39)	missense	probably damaging	0.98
R6188:Kpna7	UTSW	5	144,929,654 (GRCm39)	missense	probably damaging	1.00
R7163:Kpna7	UTSW	5	144,939,206 (GRCm39)	missense	unknown
R7502:Kpna7	UTSW	5	144,942,731 (GRCm39)	missense	probably benign	0.07
R7727:Kpna7	UTSW	5	144,941,855 (GRCm39)	missense	probably benign	0.19
R8921:Kpna7	UTSW	5	144,941,840 (GRCm39)	missense	probably damaging	1.00
R9672:Kpna7	UTSW	5	144,944,776 (GRCm39)	missense	probably benign	0.31
X0021:Kpna7	UTSW	5	144,944,043 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ATCATCCATCTTGCCGACGACG -3'
(R):5'- TCTCGCCCATCCTCAGCATATAGAC -3'

Sequencing Primer
(F):5'- tcaaacatccgtgctcacc -3'
(R):5'- TCCTCAGCATATAGACAATCTACAAG -3'

Posted On

2013-06-11