Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Kpna7'

316747

Institutional Source

Beutler Lab

Gene Symbol

Kpna7

Ensembl Gene

ENSMUSG00000038770

Gene Name

karyopherin subunit alpha 7

Synonyms

LOC381686, importin alpha 2

MMRRC Submission

040976-MU

Accession Numbers

Essential gene?

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

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144920537-144946446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144942737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 83 (I83T)

Ref Sequence

ENSEMBL: ENSMUSP00000112155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110672] [ENSMUST00000110673] [ENSMUST00000116454] [ENSMUST00000139024] [ENSMUST00000151196]

AlphaFold

C0LLJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110672
AA Change: I83T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: I83T

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: I83T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: I83T

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

possibly damaging
Transcript: ENSMUST00000116454
AA Change: I83T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: I83T

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

probably benign
Transcript: ENSMUST00000139024
AA Change: I61T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121515
Gene: ENSMUSG00000038770
AA Change: I61T

Domain	Start	End	E-Value	Type
Pfam:Arm	78	119	7.6e-13	PFAM
Pfam:HEAT_2	91	164	4.6e-9	PFAM
Pfam:HEAT_EZ	104	159	2.1e-8	PFAM
Pfam:Arm	121	161	4.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142866

Predicted Effect

probably benign
Transcript: ENSMUST00000151196

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,247,473 (GRCm39)		probably null	Het
Ankfy1	C	A	11: 72,580,835 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,720,694 (GRCm39)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Armc9	A	T	1: 86,140,851 (GRCm39)		probably benign	Het
Bnc1	T	C	7: 81,623,508 (GRCm39)	E573G	probably damaging	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 123,374,434 (GRCm39)		probably null	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdc45	A	T	16: 18,630,110 (GRCm39)	V19D	probably damaging	Het
Cfap57	C	A	4: 118,456,194 (GRCm39)	S500I	probably benign	Het
Cnga3	A	T	1: 37,280,946 (GRCm39)	Q47L	possibly damaging	Het
Corin	T	C	5: 72,661,226 (GRCm39)	D89G	probably benign	Het
Cox16	A	T	12: 81,521,109 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,006,791 (GRCm39)	N50S	probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fcer1a	C	T	1: 173,052,920 (GRCm39)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,892,120 (GRCm39)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Llgl1	C	A	11: 60,601,110 (GRCm39)		probably null	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,596,998 (GRCm39)	L152W	probably damaging	Het
Mog	A	G	17: 37,323,302 (GRCm39)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,439,634 (GRCm39)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,441,057 (GRCm39)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,357,236 (GRCm39)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,806,123 (GRCm39)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Or52x1	A	T	7: 104,853,228 (GRCm39)	H107Q	probably damaging	Het
Or8u10	A	G	2: 85,915,656 (GRCm39)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,908,994 (GRCm39)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phax	A	G	18: 56,709,051 (GRCm39)	N183S	possibly damaging	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptpru	A	T	4: 131,526,021 (GRCm39)		probably null	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,115,510 (GRCm39)	S693P	probably benign	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Serpina3a	C	T	12: 104,085,934 (GRCm39)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,042,543 (GRCm39)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,319,377 (GRCm39)	V254I	probably benign	Het
Speer4e2	A	T	5: 15,027,663 (GRCm39)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,572,724 (GRCm39)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tns1	G	A	1: 74,034,467 (GRCm39)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,667,537 (GRCm39)	L3P	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp32	T	A	11: 84,930,055 (GRCm39)	Y574F	probably 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
R0027:Kpna7	UTSW	5	144,926,507 (GRCm39)	missense	probably damaging	0.99
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
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'- CACGAGGCAGTTCTTAAGTTG -3'
(R):5'- TCTGTTTCCATCGGATGCTG -3'

Sequencing Primer
(F):5'- GTTGCCCTCAAGGACAATTG -3'
(R):5'- ATGCTGGGTGAAGCCTCTCAG -3'

Posted On

2015-05-15