Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Kpna7'

457790

Institutional Source

Beutler Lab

Gene Symbol

Kpna7

Ensembl Gene

ENSMUSG00000038770

Gene Name

karyopherin alpha 7 (importin alpha 8)

Synonyms

LOC381686

MMRRC Submission

044089-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144983519-145084030 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144989795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 449 (F449S)

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: F449S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: F449S

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: F470S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: F470S

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: F449S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: F449S

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	probably benign	Het

Other mutations in Kpna7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Kpna7	APN	5	145007246	missense	probably damaging	1.00
IGL01505:Kpna7	APN	5	144992851	missense	probably damaging	1.00
IGL02009:Kpna7	APN	5	144994078	critical splice acceptor site	probably null
IGL02365:Kpna7	APN	5	144985733	missense	possibly damaging	0.49
IGL02947:Kpna7	APN	5	144994074	missense	probably damaging	1.00
IGL03195:Kpna7	APN	5	144997037	missense	probably damaging	1.00
IGL03236:Kpna7	APN	5	144985694	missense	unknown
IGL03333:Kpna7	APN	5	145005955	missense	possibly damaging	0.48
PIT4515001:Kpna7	UTSW	5	145005052	missense	probably benign	0.17
R0027:Kpna7	UTSW	5	144989697	missense	probably damaging	0.99
R0421:Kpna7	UTSW	5	144989741	missense	possibly damaging	0.82
R0463:Kpna7	UTSW	5	145007994	missense	possibly damaging	0.66
R2229:Kpna7	UTSW	5	144989697	missense	probably damaging	0.99
R2871:Kpna7	UTSW	5	144993935	missense	probably benign	0.06
R2871:Kpna7	UTSW	5	144993935	missense	probably benign	0.06
R2873:Kpna7	UTSW	5	144993935	missense	probably benign	0.06
R2874:Kpna7	UTSW	5	144993935	missense	probably benign	0.06
R4079:Kpna7	UTSW	5	145005927	missense	possibly damaging	0.82
R5841:Kpna7	UTSW	5	144993956	missense	possibly damaging	0.73
R6188:Kpna7	UTSW	5	144992844	missense	probably damaging	1.00
R7163:Kpna7	UTSW	5	145002396	missense	unknown
R7502:Kpna7	UTSW	5	145005921	missense	probably benign	0.07
R7727:Kpna7	UTSW	5	145005045	missense	probably benign	0.19
R8921:Kpna7	UTSW	5	145005030	missense	probably damaging	1.00
R9672:Kpna7	UTSW	5	145007966	missense	probably benign	0.31
X0021:Kpna7	UTSW	5	145007233	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ACAAGCTTCCTGATACTCAAAGG -3'
(R):5'- AGCTGAAGTTCCACGTGCAC -3'

Sequencing Primer
(F):5'- TGATACTCAAAGGCCACCTGTAG -3'
(R):5'- TGGGTCTCACTGTCTCTTTGCTGGCT -3'

Posted On

2017-02-15