Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Ipo4'

101187

Institutional Source

Beutler Lab

Gene Symbol

Ipo4

Ensembl Gene

ENSMUSG00000002319

Gene Name

importin 4

Synonyms

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55625400-55635957 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55635020 bp (GRCm38)

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] [ENSMUST00000132338] [ENSMUST00000135221] [ENSMUST00000148351] [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

noncoding transcript
Transcript: ENSMUST00000127773

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

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 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 benign
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148942

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: 40,993,579 (GRCm38)	D315V	probably damaging	Het
4931440F15Rik	C	T	11: 29,823,567 (GRCm38)	R630H	probably damaging	Het
Acr	T	C	15: 89,573,974 (GRCm38)	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500 (GRCm38)	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108 (GRCm38)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307 (GRCm38)		probably null	Het
Bfar	A	G	16: 13,698,894 (GRCm38)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,859,304 (GRCm38)	S470C	probably damaging	Het
Cep135	A	G	5: 76,624,637 (GRCm38)	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788 (GRCm38)		probably null	Het
Clptm1	A	T	7: 19,634,211 (GRCm38)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330 (GRCm38)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781 (GRCm38)		probably null	Het
Dst	A	G	1: 34,223,858 (GRCm38)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066 (GRCm38)	T238A	probably benign	Het
Elmo1	T	C	13: 20,185,455 (GRCm38)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,628,679 (GRCm38)	S225P	possibly damaging	Het
Fes	A	T	7: 80,383,109 (GRCm38)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066 (GRCm38)	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170 (GRCm38)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm4884	A	T	7: 41,043,912 (GRCm38)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380 (GRCm38)		probably benign	Het
Gm8882	G	A	6: 132,361,590 (GRCm38)	P222S	unknown	Het
Ift140	T	G	17: 25,035,745 (GRCm38)	S131A	probably benign	Het
Itgal	G	A	7: 127,300,939 (GRCm38)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952 (GRCm38)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337 (GRCm38)	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377 (GRCm38)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345 (GRCm38)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745 (GRCm38)	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194 (GRCm38)	V347A	probably damaging	Het
Olfr1037	A	G	2: 86,085,291 (GRCm38)	V162A	probably benign	Het
Olfr1339	C	A	4: 118,734,632 (GRCm38)	F34L	possibly damaging	Het
Olfr790	G	A	10: 129,501,150 (GRCm38)	V89I	probably benign	Het
Oxct2b	A	G	4: 123,117,585 (GRCm38)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131 (GRCm38)	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142 (GRCm38)	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245 (GRCm38)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269 (GRCm38)	D190E	probably benign	Het
R3hdm4	A	G	10: 79,912,073 (GRCm38)		probably null	Het
Rab1a	C	A	11: 20,223,172 (GRCm38)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502 (GRCm38)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254 (GRCm38)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299 (GRCm38)	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423 (GRCm38)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882 (GRCm38)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907 (GRCm38)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,997,620 (GRCm38)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,660,113 (GRCm38)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549 (GRCm38)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236 (GRCm38)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574 (GRCm38)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591 (GRCm38)	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387 (GRCm38)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,943,111 (GRCm38)	Q384L	probably damaging	Het
Steap4	A	C	5: 7,976,520 (GRCm38)	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231 (GRCm38)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019 (GRCm38)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684 (GRCm38)	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796 (GRCm38)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086 (GRCm38)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520 (GRCm38)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901 (GRCm38)	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226 (GRCm38)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043 (GRCm38)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746 (GRCm38)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176 (GRCm38)	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931 (GRCm38)	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779 (GRCm38)	L783*	probably null	Het
Zer1	C	T	2: 30,108,246 (GRCm38)	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437 (GRCm38)	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979 (GRCm38)	H425Y	probably damaging	Het

Other mutations in Ipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0268:Ipo4	UTSW	14	55,625,942 (GRCm38)	missense	possibly damaging	0.92
R0277:Ipo4	UTSW	14	55,632,115 (GRCm38)	missense	probably benign	0.03
R0344:Ipo4	UTSW	14	55,625,942 (GRCm38)	missense	possibly damaging	0.92
R0467:Ipo4	UTSW	14	55,635,526 (GRCm38)	start codon destroyed	probably null
R1217:Ipo4	UTSW	14	55,634,359 (GRCm38)	missense	probably damaging	0.98
R1804:Ipo4	UTSW	14	55,629,456 (GRCm38)	missense	probably damaging	1.00
R2270:Ipo4	UTSW	14	55,634,100 (GRCm38)	missense	probably damaging	1.00
R3551:Ipo4	UTSW	14	55,633,103 (GRCm38)	missense	probably benign	0.10
R4561:Ipo4	UTSW	14	55,630,089 (GRCm38)	splice site	probably benign
R4801:Ipo4	UTSW	14	55,631,214 (GRCm38)	missense	probably damaging	1.00
R4802:Ipo4	UTSW	14	55,631,214 (GRCm38)	missense	probably damaging	1.00
R4804:Ipo4	UTSW	14	55,630,856 (GRCm38)	missense	possibly damaging	0.80
R5384:Ipo4	UTSW	14	55,626,196 (GRCm38)	missense	probably benign	0.28
R5493:Ipo4	UTSW	14	55,630,870 (GRCm38)	missense	probably benign	0.00
R5527:Ipo4	UTSW	14	55,632,050 (GRCm38)	splice site	probably null
R5631:Ipo4	UTSW	14	55,633,381 (GRCm38)	missense	probably benign	0.08
R5631:Ipo4	UTSW	14	55,632,069 (GRCm38)	missense	probably damaging	1.00
R5788:Ipo4	UTSW	14	55,628,820 (GRCm38)	missense	probably benign	0.02
R5929:Ipo4	UTSW	14	55,631,189 (GRCm38)	missense	probably benign	0.03
R6018:Ipo4	UTSW	14	55,626,152 (GRCm38)	critical splice donor site	probably null
R6031:Ipo4	UTSW	14	55,632,139 (GRCm38)	missense	probably damaging	1.00
R6031:Ipo4	UTSW	14	55,632,139 (GRCm38)	missense	probably damaging	1.00
R6707:Ipo4	UTSW	14	55,628,904 (GRCm38)	missense	possibly damaging	0.82
R7344:Ipo4	UTSW	14	55,635,531 (GRCm38)	missense	probably benign	0.00
R7345:Ipo4	UTSW	14	55,635,531 (GRCm38)	missense	probably benign	0.00
R7702:Ipo4	UTSW	14	55,632,330 (GRCm38)	missense	probably damaging	1.00
R9028:Ipo4	UTSW	14	55,628,951 (GRCm38)	missense	probably damaging	1.00
R9197:Ipo4	UTSW	14	55,633,383 (GRCm38)	missense	probably damaging	1.00
R9202:Ipo4	UTSW	14	55,631,140 (GRCm38)	critical splice donor site	probably null
R9244:Ipo4	UTSW	14	55,634,342 (GRCm38)	missense	probably damaging	1.00
R9547:Ipo4	UTSW	14	55,633,332 (GRCm38)	critical splice donor site	probably null

Predicted Primers

Posted On

2014-01-15