Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:Ipcef1'

105770

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipcef1

Ensembl Gene

ENSMUSG00000064065

Gene Name

interaction protein for cytohesin exchange factors 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

6885796-7052478 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6890575 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 374 (I374N)

Ref Sequence

ENSEMBL: ENSMUSP00000101242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052751] [ENSMUST00000063036] [ENSMUST00000078070] [ENSMUST00000105601] [ENSMUST00000105611] [ENSMUST00000105615] [ENSMUST00000105617] [ENSMUST00000123861] [ENSMUST00000129221] [ENSMUST00000129954] [ENSMUST00000135502] [ENSMUST00000144264] [ENSMUST00000147171] [ENSMUST00000154941]

Predicted Effect

probably benign
Transcript: ENSMUST00000052751

SMART Domains

Protein: ENSMUSP00000060329
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	76	325	1.1e-7	PFAM
Pfam:7TM_GPCR_Srsx	79	351	1e-10	PFAM
Pfam:7tm_1	85	336	3.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063036

SMART Domains

Protein: ENSMUSP00000053498
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	268	8.7e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000078070
AA Change: I378N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: I378N

Domain	Start	End	E-Value	Type
PH	14	114	5.87e-20	SMART
low complexity region	132	150	N/A	INTRINSIC
low complexity region	246	261	N/A	INTRINSIC
Blast:PH	286	343	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105601

SMART Domains

Protein: ENSMUSP00000101226
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	46	100	3e-9	SMART
PDB:4DKL\|A	52	100	3e-21	PDB
low complexity region	119	131	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105611

SMART Domains

Protein: ENSMUSP00000101236
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	76	338	1.7e-7	PFAM
Pfam:7TM_GPCR_Srsx	79	351	1.4e-10	PFAM
Pfam:7tm_1	85	336	4.4e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105615

SMART Domains

Protein: ENSMUSP00000101240
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	268	1.3e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105617
AA Change: I374N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: I374N

Domain	Start	End	E-Value	Type
PH	14	114	5.87e-20	SMART
low complexity region	132	153	N/A	INTRINSIC
low complexity region	242	257	N/A	INTRINSIC
Blast:PH	282	339	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123861

SMART Domains

Protein: ENSMUSP00000120187
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	46	100	3e-9	SMART
PDB:4DKL\|A	52	100	3e-21	PDB
low complexity region	119	131	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129221

SMART Domains

Protein: ENSMUSP00000123117
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	12	261	1.1e-7	PFAM
Pfam:7TM_GPCR_Srsx	15	287	7.3e-11	PFAM
Pfam:7tm_1	21	272	2.4e-67	PFAM
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129954

SMART Domains

Protein: ENSMUSP00000122385
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	76	338	6.9e-8	PFAM
Pfam:7TM_GPCR_Srsx	79	351	1.5e-10	PFAM
Pfam:7tm_1	85	336	5.4e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135502

SMART Domains

Protein: ENSMUSP00000135143
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	76	339	2.2e-7	PFAM
Pfam:7TM_GPCR_Srsx	79	351	1.9e-10	PFAM
Pfam:7tm_1	85	336	7.5e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141897

Predicted Effect

probably benign
Transcript: ENSMUST00000144264

SMART Domains

Protein: ENSMUSP00000115836
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	76	325	1.7e-7	PFAM
Pfam:7TM_GPCR_Srsx	79	351	1e-10	PFAM
Pfam:7tm_1	85	336	3.4e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147171

SMART Domains

Protein: ENSMUSP00000117950
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	268	9.2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154941

SMART Domains

Protein: ENSMUSP00000115413
Gene: ENSMUSG00000000766

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	12	261	9.6e-8	PFAM
Pfam:7TM_GPCR_Srsx	15	287	6.1e-11	PFAM
Pfam:7tm_1	21	272	2e-67	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,710,036	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cep128	C	A	12: 91,230,842	G402C	probably damaging	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Cyp3a44	A	G	5: 145,794,935	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922	L179R	possibly damaging	Het
Ell	T	A	8: 70,581,681		probably null	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het
Zmpste24	A	T	4: 121,061,111	L438Q	probably damaging	Het

Other mutations in Ipcef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Ipcef1	APN	10	6919968	missense	probably damaging	1.00
IGL01018:Ipcef1	APN	10	6890551	missense	probably benign
IGL01295:Ipcef1	APN	10	6900642	missense	probably damaging	1.00
IGL03095:Ipcef1	APN	10	6919732	missense	probably damaging	1.00
R0001:Ipcef1	UTSW	10	6900600	missense	probably damaging	0.99
R0206:Ipcef1	UTSW	10	6920062	missense	probably damaging	1.00
R0208:Ipcef1	UTSW	10	6920062	missense	probably damaging	1.00
R1161:Ipcef1	UTSW	10	6980288	critical splice acceptor site	probably null
R1496:Ipcef1	UTSW	10	6935173	critical splice donor site	probably null
R1592:Ipcef1	UTSW	10	6935182	splice site	probably null
R1829:Ipcef1	UTSW	10	6919900	missense	probably benign	0.27
R1893:Ipcef1	UTSW	10	6900680	missense	probably damaging	1.00
R2107:Ipcef1	UTSW	10	6890501	missense	probably benign	0.01
R2160:Ipcef1	UTSW	10	6890650	missense	probably damaging	1.00
R2413:Ipcef1	UTSW	10	6935225	missense	probably damaging	1.00
R2655:Ipcef1	UTSW	10	6979657	missense	probably benign	0.02
R2886:Ipcef1	UTSW	10	6900641	missense	probably damaging	1.00
R4752:Ipcef1	UTSW	10	6979573	missense	probably damaging	1.00
R5134:Ipcef1	UTSW	10	6919950	missense	probably benign	0.03
R5800:Ipcef1	UTSW	10	6890569	missense	probably damaging	1.00
R5938:Ipcef1	UTSW	10	6908029	unclassified	probably benign
R5989:Ipcef1	UTSW	10	6979532	nonsense	probably null
R7397:Ipcef1	UTSW	10	6972244	makesense	probably null
R7414:Ipcef1	UTSW	10	6890673	nonsense	probably null
R7425:Ipcef1	UTSW	10	6956066	missense	probably damaging	1.00
R7859:Ipcef1	UTSW	10	6890569	missense	probably damaging	1.00
R7966:Ipcef1	UTSW	10	6900668	missense	probably damaging	1.00
R8255:Ipcef1	UTSW	10	6920007	missense	probably benign	0.10

Posted On

2014-01-21