Mutagenetix > Incidental Mutations

Incidental Mutation 'R1217:Ipo4'

99770

Institutional Source

Beutler Lab

Gene Symbol

Ipo4

Ensembl Gene

ENSMUSG00000002319

Gene Name

importin 4

Synonyms

MMRRC Submission

039286-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R1217 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55625400-55635957 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55634359 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 113 (K113R)

Ref Sequence

ENSEMBL: ENSMUSP00000154717 (fasta)

Gene Model

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

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: K110R

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319
AA Change: K110R

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: K113R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

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 benign
Transcript: ENSMUST00000135221
AA Change: K110R

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319
AA Change: K110R

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

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: ENSMUST00000150951

Predicted Effect

probably benign
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228754

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.6%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	A	T	10: 75,333,215	Y171F	probably damaging	Het
Agpat4	C	T	17: 12,210,316	R152W	probably damaging	Het
Aldh1a2	A	G	9: 71,281,682	N293D	possibly damaging	Het
Ash2l	T	C	8: 25,822,885	N441S	probably damaging	Het
Asrgl1	A	T	19: 9,116,500		probably null	Het
Capn3	C	A	2: 120,486,421	S277*	probably null	Het
Ccdc114	C	T	7: 45,942,758		probably benign	Het
Ccp110	T	C	7: 118,729,944		probably benign	Het
Cdh17	T	C	4: 11,799,676	V491A	probably benign	Het
Cep170b	T	C	12: 112,740,905	S362P	probably damaging	Het
Cfap57	A	G	4: 118,606,652	S335P	possibly damaging	Het
Cmklr1	A	T	5: 113,614,046	L298Q	probably damaging	Het
Col4a4	A	T	1: 82,489,009		probably null	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Cyp2d26	A	G	15: 82,792,867		probably benign	Het
Cyth3	T	C	5: 143,702,820	Y240H	probably damaging	Het
Dhx9	G	A	1: 153,458,363	T1017I	probably damaging	Het
Edar	T	C	10: 58,628,631	Y62C	probably damaging	Het
Esyt3	C	T	9: 99,318,044	G699D	possibly damaging	Het
Fgb	T	C	3: 83,043,257	T397A	probably damaging	Het
Foxc1	C	A	13: 31,808,685	A493E	unknown	Het
Gm8251	A	T	1: 44,057,179	S1586R	possibly damaging	Het
Grid1	T	C	14: 34,820,229	M1T	probably null	Het
Kif21b	A	G	1: 136,152,376	E550G	probably damaging	Het
Krt1	T	C	15: 101,848,981	K265E	possibly damaging	Het
Lmx1a	G	A	1: 167,791,399	R109H	probably damaging	Het
Mcm5	A	G	8: 75,126,291	K677R	probably benign	Het
Metap1	A	T	3: 138,475,030	L130*	probably null	Het
Mrgpra4	A	G	7: 47,981,337	L172P	probably benign	Het
Mylip	G	A	13: 45,406,702	E205K	probably damaging	Het
Myo3b	A	C	2: 70,330,880	E1128A	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nlrp4d	T	C	7: 10,364,267	I823V	probably benign	Het
Rec114	A	T	9: 58,665,820		probably benign	Het
Rimbp2	C	T	5: 128,788,287	A666T	probably benign	Het
Siva1	C	T	12: 112,646,921	Q68*	probably null	Het
Slc22a27	T	A	19: 7,926,668	I35F	probably benign	Het
Slco1a5	T	A	6: 142,254,374	N228I	probably damaging	Het
St8sia4	G	A	1: 95,653,739	R93C	probably damaging	Het
Tprg	T	C	16: 25,412,843	S190P	probably damaging	Het
Trpc6	A	G	9: 8,658,286		probably null	Het
Vmn2r70	C	T	7: 85,559,061	C736Y	probably damaging	Het
Zfp629	C	T	7: 127,612,744		probably benign	Het
Zswim4	A	G	8: 84,219,972	V685A	possibly damaging	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
R1804:Ipo4	UTSW	14	55629456	missense	probably damaging	1.00
R2270:Ipo4	UTSW	14	55634100	missense	probably damaging	1.00
R3551:Ipo4	UTSW	14	55633103	missense	probably benign	0.10
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	unclassified	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

Predicted Primers

PCR Primer
(F):5'- TTCTGAAAGCGAGGGCACGAAACC -3'
(R):5'- TGCTGACCGAGCCAGATCACAATG -3'

Sequencing Primer
(F):5'- TGAGCGTCTCATTCAGAAGC -3'
(R):5'- ATGGGGTCTGCCTTAGGAAAG -3'

Posted On

2014-01-15