Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Kpna7'

595553

Institutional Source

Beutler Lab

Gene Symbol

Kpna7

Ensembl Gene

ENSMUSG00000038770

Gene Name

karyopherin subunit alpha 7

Synonyms

LOC381686, importin alpha 2

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

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

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144920537-144946446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144941855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 145 (E145G)

Ref Sequence

ENSEMBL: ENSMUSP00000106300 (fasta)

Gene Model

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

AlphaFold

C0LLJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000110672
AA Change: E145G

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: E145G

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: ENSMUST00000110673
AA Change: E145G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: E145G

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 benign
Transcript: ENSMUST00000116454
AA Change: E145G

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: E145G

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: E123G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121515
Gene: ENSMUSG00000038770
AA Change: E123G

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

probably benign
Transcript: ENSMUST00000151196

Meta Mutation Damage Score

0.1130

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	T	16: 85,696,854 (GRCm39)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,746,007 (GRCm39)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,678,346 (GRCm39)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,202,148 (GRCm39)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,790,163 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,744,974 (GRCm39)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,275,162 (GRCm39)	E234*	probably null	Het
Cemip2	C	T	19: 21,807,321 (GRCm39)	L917F	probably benign	Het
Cfap65	T	C	1: 74,965,784 (GRCm39)	T409A	probably benign	Het
Chst5	A	T	8: 112,617,557 (GRCm39)	I21N	probably benign	Het
Cldn20	T	C	17: 3,583,030 (GRCm39)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,506,514 (GRCm39)	M269V	unknown	Het
Dgkh	A	G	14: 78,832,585 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,656,242 (GRCm39)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,731 (GRCm39)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Fsd1	T	G	17: 56,295,150 (GRCm39)	D46E	probably benign	Het
Gabra1	T	C	11: 42,024,418 (GRCm39)	D419G	probably damaging	Het
Golga4	T	A	9: 118,377,770 (GRCm39)	D458E	probably damaging	Het
Grm6	C	A	11: 50,742,369 (GRCm39)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,698,339 (GRCm39)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,412,500 (GRCm39)	V74I	probably benign	Het
Kcng2	C	T	18: 80,339,305 (GRCm39)	V328M	probably benign	Het
Krt81	A	G	15: 101,357,448 (GRCm39)	V428A	probably damaging	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lrpprc	T	C	17: 85,084,375 (GRCm39)	S113G	probably benign	Het
Mboat1	A	C	13: 30,410,289 (GRCm39)	M249L	probably benign	Het
Meltf	T	C	16: 31,702,612 (GRCm39)	V113A	probably damaging	Het
Muc16	T	A	9: 18,571,538 (GRCm39)	H327L	unknown	Het
Myh1	A	G	11: 67,106,748 (GRCm39)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Naga	C	A	15: 82,214,348 (GRCm39)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,291,162 (GRCm39)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,824,793 (GRCm39)	S157*	probably null	Het
Or13c25	A	G	4: 52,911,368 (GRCm39)	V142A	possibly damaging	Het
Or5g23	A	G	2: 85,438,751 (GRCm39)	F168L	possibly damaging	Het
Or8u3-ps	A	T	2: 85,952,840 (GRCm39)	D191V	possibly damaging	Het
Pcdhga5	T	C	18: 37,828,098 (GRCm39)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,547,081 (GRCm39)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,631,506 (GRCm39)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,779,971 (GRCm39)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,669,723 (GRCm39)	F131L	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Rab28	A	G	5: 41,865,313 (GRCm39)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,291,260 (GRCm39)	Q209K	probably benign	Het
Schip1	G	A	3: 67,972,317 (GRCm39)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,184,477 (GRCm39)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,422,193 (GRCm39)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 62,122,651 (GRCm39)	I471F	probably benign	Het
Slamf1	G	A	1: 171,602,467 (GRCm39)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,574,871 (GRCm39)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,263,446 (GRCm39)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,895,822 (GRCm39)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,373,019 (GRCm39)	R228C	probably damaging	Het
Sv2c	A	G	13: 96,113,203 (GRCm39)	I582T	possibly damaging	Het
Tamm41	C	T	6: 114,993,139 (GRCm39)	V205M	probably damaging	Het
Trpm2	T	C	10: 77,761,623 (GRCm39)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,831,613 (GRCm39)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,923,731 (GRCm39)	V147I	possibly damaging	Het
Tut7	A	G	13: 59,947,496 (GRCm39)	F942L	probably benign	Het
Uba2	C	T	7: 33,850,275 (GRCm39)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,440,873 (GRCm39)	N416K	probably benign	Het
Uevld	T	C	7: 46,593,553 (GRCm39)	N233S	probably benign	Het
Upp2	G	A	2: 58,664,160 (GRCm39)	M142I	possibly damaging	Het
Vps52	T	A	17: 34,181,108 (GRCm39)	V450D	probably benign	Het
Wdr31	A	T	4: 62,378,873 (GRCm39)	F118Y	probably damaging	Het
Zfp110	T	A	7: 12,582,922 (GRCm39)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,293,457 (GRCm39)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,108,379 (GRCm39)	I235V	probably benign	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
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
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'- TGTGAAGCAGCTCACTCCAC -3'
(R):5'- GTCTCACTGCACAGGGAAATG -3'

Sequencing Primer
(F):5'- CACAGCACTAGGTATTTACATTGGGG -3'
(R):5'- TCACTGCACAGGGAAATGATCTCG -3'

Posted On

2019-11-12