Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Ipo4'

268362

Institutional Source

Beutler Lab

Gene Symbol

Ipo4

Ensembl Gene

ENSMUSG00000002319

Gene Name

importin 4

Synonyms

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R3551 (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 55633103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 288 (V288A)

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 benign
Transcript: ENSMUST00000047131
AA Change: V288A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319
AA Change: V288A

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 benign
Transcript: ENSMUST00000125133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127773

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 benign
Transcript: ENSMUST00000135221
AA Change: V288A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319
AA Change: V288A

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: ENSMUST00000148351

SMART Domains

Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150951

Predicted Effect

probably benign
Transcript: ENSMUST00000156420

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228754

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Lrfn1	T	C	7: 28,460,054	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	probably benign	Het

Other mutations in Ipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0268:Ipo4	UTSW	14	55625942	missense	possibly damaging	0.92
R0277:Ipo4	UTSW	14	55632115	missense	probably benign	0.03
R0344:Ipo4	UTSW	14	55625942	missense	possibly damaging	0.92
R0467:Ipo4	UTSW	14	55635526	start codon destroyed	probably null
R1167:Ipo4	UTSW	14	55635020	missense	probably damaging	1.00
R1217:Ipo4	UTSW	14	55634359	missense	probably damaging	0.98
R1804:Ipo4	UTSW	14	55629456	missense	probably damaging	1.00
R2270:Ipo4	UTSW	14	55634100	missense	probably damaging	1.00
R4561:Ipo4	UTSW	14	55630089	splice site	probably benign
R4801:Ipo4	UTSW	14	55631214	missense	probably damaging	1.00
R4802:Ipo4	UTSW	14	55631214	missense	probably damaging	1.00
R4804:Ipo4	UTSW	14	55630856	missense	possibly damaging	0.80
R5384:Ipo4	UTSW	14	55626196	missense	probably benign	0.28
R5493:Ipo4	UTSW	14	55630870	missense	probably benign	0.00
R5527:Ipo4	UTSW	14	55632050	splice site	probably null
R5631:Ipo4	UTSW	14	55632069	missense	probably damaging	1.00
R5631:Ipo4	UTSW	14	55633381	missense	probably benign	0.08
R5788:Ipo4	UTSW	14	55628820	missense	probably benign	0.02
R5929:Ipo4	UTSW	14	55631189	missense	probably benign	0.03
R6018:Ipo4	UTSW	14	55626152	critical splice donor site	probably null
R6031:Ipo4	UTSW	14	55632139	missense	probably damaging	1.00
R6031:Ipo4	UTSW	14	55632139	missense	probably damaging	1.00
R6707:Ipo4	UTSW	14	55628904	missense	possibly damaging	0.82
R7344:Ipo4	UTSW	14	55635531	missense	probably benign	0.00
R7345:Ipo4	UTSW	14	55635531	missense	probably benign	0.00
R7702:Ipo4	UTSW	14	55632330	missense	probably damaging	1.00
R9028:Ipo4	UTSW	14	55628951	missense	probably damaging	1.00
R9197:Ipo4	UTSW	14	55633383	missense	probably damaging	1.00
R9202:Ipo4	UTSW	14	55631140	critical splice donor site	probably null
R9244:Ipo4	UTSW	14	55634342	missense	probably damaging	1.00
R9547:Ipo4	UTSW	14	55633332	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCCTGAACCACTGTTTG -3'
(R):5'- TGTAGGCTTAGTCCTGCTCGAG -3'

Sequencing Primer
(F):5'- TGGAAATCTCCGAAGCCATG -3'
(R):5'- TAGTCCTGCTCGAGCCCTG -3'

Posted On

2015-02-19