Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Ipo4'

101187

Institutional Source

Beutler Lab

Gene Symbol

Ipo4

Ensembl Gene

ENSMUSG00000002319

Gene Name

importin 4

Synonyms

8430408O15Rik

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55862857-55873321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55872477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 88 (L88P)

Ref Sequence

ENSEMBL: ENSMUSP00000123692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002391] [ENSMUST00000047131] [ENSMUST00000120041] [ENSMUST00000121791] [ENSMUST00000121937] [ENSMUST00000122358] [ENSMUST00000125133] [ENSMUST00000148351] [ENSMUST00000135221] [ENSMUST00000132338] [ENSMUST00000149726]

AlphaFold

Q8VI75

Predicted Effect

probably benign
Transcript: ENSMUST00000002391

SMART Domains

Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	564	1.3e-187	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000047131
AA Change: L88P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319
AA Change: L88P

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART
Blast:IBN_N	101	170	4e-20	BLAST
Blast:IBN_N	224	293	4e-31	BLAST
low complexity region	307	321	N/A	INTRINSIC
Pfam:HEAT	395	425	7.7e-7	PFAM
Blast:ARM	465	499	8e-13	BLAST
low complexity region	500	511	N/A	INTRINSIC
low complexity region	636	660	N/A	INTRINSIC
low complexity region	733	743	N/A	INTRINSIC
low complexity region	811	830	N/A	INTRINSIC
low complexity region	851	864	N/A	INTRINSIC
Pfam:HEAT	901	931	1.9e-5	PFAM
Pfam:HEAT_EZ	914	969	2.3e-9	PFAM
low complexity region	1043	1053	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120041

SMART Domains

Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	564	1.3e-187	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121791

SMART Domains

Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	564	1.3e-187	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121937

SMART Domains

Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	547	9e-169	PFAM
transmembrane domain	550	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122358

SMART Domains

Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	58	563	2.3e-164	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125133
AA Change: L91P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000148351
AA Change: L88P

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

SMART Domains

Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319
AA Change: L88P

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135221
AA Change: L88P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319
AA Change: L88P

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART
Blast:IBN_N	101	170	3e-20	BLAST
Blast:IBN_N	224	293	2e-31	BLAST
low complexity region	307	321	N/A	INTRINSIC
Pfam:HEAT	395	425	7.4e-7	PFAM
Blast:ARM	465	499	7e-13	BLAST
low complexity region	500	511	N/A	INTRINSIC
low complexity region	636	660	N/A	INTRINSIC
low complexity region	733	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130167

Predicted Effect

probably benign
Transcript: ENSMUST00000132338

SMART Domains

Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	477	9.2e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228754

Predicted Effect

probably benign
Transcript: ENSMUST00000149726

SMART Domains

Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	390	1.7e-103	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,003 (GRCm39)	D315V	probably damaging	Het
Acr	T	C	15: 89,458,177 (GRCm39)	I286T	probably damaging	Het
Adnp	A	G	2: 168,026,420 (GRCm39)	S292P	probably benign	Het
Apol6	T	A	15: 76,931,308 (GRCm39)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,065,264 (GRCm39)		probably null	Het
Bfar	A	G	16: 13,516,758 (GRCm39)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,898,463 (GRCm39)	S470C	probably damaging	Het
Cep135	A	G	5: 76,772,484 (GRCm39)	E623G	probably damaging	Het
Clcn3	A	G	8: 61,375,822 (GRCm39)		probably null	Het
Clptm1	A	T	7: 19,368,136 (GRCm39)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,561,312 (GRCm39)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,553,701 (GRCm39)		probably null	Het
Dst	A	G	1: 34,262,939 (GRCm39)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,245,795 (GRCm39)	T238A	probably benign	Het
Elmo1	T	C	13: 20,369,625 (GRCm39)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,606,079 (GRCm39)	S225P	possibly damaging	Het
Fem1al	C	T	11: 29,773,567 (GRCm39)	R630H	probably damaging	Het
Fes	A	T	7: 80,032,857 (GRCm39)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,249,892 (GRCm39)	N544K	probably damaging	Het
Gga1	C	G	15: 78,772,370 (GRCm39)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm4884	A	T	7: 40,693,336 (GRCm39)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,727,581 (GRCm39)		probably benign	Het
Ift140	T	G	17: 25,254,719 (GRCm39)	S131A	probably benign	Het
Itgal	G	A	7: 126,900,111 (GRCm39)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,472,259 (GRCm39)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,285,337 (GRCm39)	M521L	probably benign	Het
Myocd	G	T	11: 65,087,203 (GRCm39)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,696,302 (GRCm39)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,341,719 (GRCm39)	D2011G	possibly damaging	Het
Ola1	A	G	2: 72,927,538 (GRCm39)	V347A	probably damaging	Het
Or13p5	C	A	4: 118,591,829 (GRCm39)	F34L	possibly damaging	Het
Or6c75	G	A	10: 129,337,019 (GRCm39)	V89I	probably benign	Het
Or8u10	A	G	2: 85,915,635 (GRCm39)	V162A	probably benign	Het
Oxct2b	A	G	4: 123,011,378 (GRCm39)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,022,552 (GRCm39)	R312G	probably damaging	Het
Pbrm1	A	G	14: 30,772,099 (GRCm39)	N398D	probably damaging	Het
Pdc	T	C	1: 150,208,996 (GRCm39)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pop4	A	T	7: 37,962,693 (GRCm39)	D190E	probably benign	Het
Prb1c	G	A	6: 132,338,553 (GRCm39)	P222S	unknown	Het
R3hdm4	A	G	10: 79,747,907 (GRCm39)		probably null	Het
Rab1a	C	A	11: 20,173,172 (GRCm39)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,247,501 (GRCm39)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,252,159 (GRCm39)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,243,458 (GRCm39)	T270M	probably damaging	Het
Rho	A	G	6: 115,912,384 (GRCm39)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,366,947 (GRCm39)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,335,203 (GRCm39)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,833,450 (GRCm39)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,674,999 (GRCm39)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 109,963,756 (GRCm39)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,900,451 (GRCm39)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,058,918 (GRCm39)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,423,791 (GRCm39)	E40G	probably benign	Het
Slc8a2	A	G	7: 15,891,312 (GRCm39)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,982,270 (GRCm39)	Q384L	probably damaging	Het
Steap4	A	C	5: 8,026,520 (GRCm39)	K161T	probably benign	Het
Taf10	T	C	7: 105,392,438 (GRCm39)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,845,455 (GRCm39)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,755,511 (GRCm39)	K162N	probably benign	Het
Tmem147	A	G	7: 30,427,221 (GRCm39)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,755,323 (GRCm39)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,141,374 (GRCm39)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 34,131,929 (GRCm39)	S13P	probably damaging	Het
Usp49	A	G	17: 47,983,151 (GRCm39)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,639,078 (GRCm39)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,450,954 (GRCm39)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,951,042 (GRCm39)	L134F	probably benign	Het
Wdfy3	T	A	5: 102,023,797 (GRCm39)	I2437F	probably benign	Het
Wwc2	A	T	8: 48,311,814 (GRCm39)	L783*	probably null	Het
Zer1	C	T	2: 29,998,258 (GRCm39)	R351H	probably benign	Het
Zfp715	A	T	7: 42,947,861 (GRCm39)	F700I	possibly damaging	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	probably damaging	Het

Other mutations in Ipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0268:Ipo4	UTSW	14	55,863,399 (GRCm39)	missense	possibly damaging	0.92
R0277:Ipo4	UTSW	14	55,869,572 (GRCm39)	missense	probably benign	0.03
R0344:Ipo4	UTSW	14	55,863,399 (GRCm39)	missense	possibly damaging	0.92
R0467:Ipo4	UTSW	14	55,872,983 (GRCm39)	start codon destroyed	probably null
R1217:Ipo4	UTSW	14	55,871,816 (GRCm39)	missense	probably damaging	0.98
R1804:Ipo4	UTSW	14	55,866,913 (GRCm39)	missense	probably damaging	1.00
R2270:Ipo4	UTSW	14	55,871,557 (GRCm39)	missense	probably damaging	1.00
R3551:Ipo4	UTSW	14	55,870,560 (GRCm39)	missense	probably benign	0.10
R4561:Ipo4	UTSW	14	55,867,546 (GRCm39)	splice site	probably benign
R4801:Ipo4	UTSW	14	55,868,671 (GRCm39)	missense	probably damaging	1.00
R4802:Ipo4	UTSW	14	55,868,671 (GRCm39)	missense	probably damaging	1.00
R4804:Ipo4	UTSW	14	55,868,313 (GRCm39)	missense	possibly damaging	0.80
R5384:Ipo4	UTSW	14	55,863,653 (GRCm39)	missense	probably benign	0.28
R5493:Ipo4	UTSW	14	55,868,327 (GRCm39)	missense	probably benign	0.00
R5527:Ipo4	UTSW	14	55,869,507 (GRCm39)	splice site	probably null
R5631:Ipo4	UTSW	14	55,870,838 (GRCm39)	missense	probably benign	0.08
R5631:Ipo4	UTSW	14	55,869,526 (GRCm39)	missense	probably damaging	1.00
R5788:Ipo4	UTSW	14	55,866,277 (GRCm39)	missense	probably benign	0.02
R5929:Ipo4	UTSW	14	55,868,646 (GRCm39)	missense	probably benign	0.03
R6018:Ipo4	UTSW	14	55,863,609 (GRCm39)	critical splice donor site	probably null
R6031:Ipo4	UTSW	14	55,869,596 (GRCm39)	missense	probably damaging	1.00
R6031:Ipo4	UTSW	14	55,869,596 (GRCm39)	missense	probably damaging	1.00
R6707:Ipo4	UTSW	14	55,866,361 (GRCm39)	missense	possibly damaging	0.82
R7344:Ipo4	UTSW	14	55,872,988 (GRCm39)	missense	probably benign	0.00
R7345:Ipo4	UTSW	14	55,872,988 (GRCm39)	missense	probably benign	0.00
R7702:Ipo4	UTSW	14	55,869,787 (GRCm39)	missense	probably damaging	1.00
R9028:Ipo4	UTSW	14	55,866,408 (GRCm39)	missense	probably damaging	1.00
R9197:Ipo4	UTSW	14	55,870,840 (GRCm39)	missense	probably damaging	1.00
R9202:Ipo4	UTSW	14	55,868,597 (GRCm39)	critical splice donor site	probably null
R9244:Ipo4	UTSW	14	55,871,799 (GRCm39)	missense	probably damaging	1.00
R9547:Ipo4	UTSW	14	55,870,789 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2014-01-15