Mutagenetix > Incidental Mutations

Incidental Mutation 'R7414:Ipcef1'

575317

Institutional Source

Beutler Lab

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: 0.099) question?

Stock #

R7414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6885796-7052478 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 6890673 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 345 (C345*)

Ref Sequence

ENSEMBL: ENSMUSP00000077215 (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 null
Transcript: ENSMUST00000078070
AA Change: C345*

SMART Domains

Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: C345*

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 null
Transcript: ENSMUST00000105617
AA Change: C341*

SMART Domains

Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: C341*

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

MGI Phenotype

Homozygotes for null mutations exhibit isoform dependent loss of behavioral and gastrointestinal opioid responses and may also show impaired spatial memory, heightened nociception, reduced locomotor activity, increased hematopoietic proliferation, and decreased male fertility.,NO_PHENOTYPE

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,024	T90M	probably damaging	Het
4922502D21Rik	T	C	6: 129,325,633	T144A	probably benign	Het
Abca4	T	A	3: 122,102,738	S540T	probably benign	Het
Adcy4	G	A	14: 55,781,633	L156F	probably benign	Het
Adcyap1	T	A	17: 93,202,828	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,784,105	T567A	probably benign	Het
Ankrd26	T	C	6: 118,508,780	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,667,380	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,359,514	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,540,956	D1126G	possibly damaging	Het
Bap1	G	C	14: 31,253,615	G139R	probably benign	Het
Bms1	C	T	6: 118,383,745	R1254Q	possibly damaging	Het
C330027C09Rik	T	C	16: 49,001,635	F209L	probably benign	Het
Ceacam15	A	G	7: 16,673,310	V94A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	not run	Het
Clock	T	C	5: 76,262,764	T87A	probably benign	Het
Cntrl	A	T	2: 35,165,467	I1706L	probably benign	Het
Cr2	C	A	1: 195,150,036	V981L	probably benign	Het
Cxcr6	G	A	9: 123,810,222	W103*	probably null	Het
Dld	A	T	12: 31,335,526	F272Y	probably damaging	Het
Dmrt2	T	A	19: 25,673,586	D45E	probably benign	Het
Eif2a	T	A	3: 58,526,081	L8*	probably null	Het
Epg5	G	T	18: 77,983,532	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,752,857	C350*	probably null	Het
Fam135b	C	T	15: 71,478,256	R345Q	probably damaging	Het
Fam196a	G	T	7: 134,918,009	A264D	probably benign	Het
Fbn2	C	T	18: 58,096,050	R696H	probably damaging	Het
Gbf1	C	A	19: 46,283,358	Y159*	probably null	Het
Gcsam	T	C	16: 45,616,938		probably null	Het
Gmpr2	G	T	14: 55,672,802		probably null	Het
H2-T3	C	A	17: 36,187,383	V257L	not run	Het
Hadha	A	G	5: 30,126,612	F449L	possibly damaging	Het
Haus3	T	A	5: 34,166,133	I378L	probably benign	Het
Hdac7	T	A	15: 97,808,511	H272L	probably benign	Het
Icam5	T	C	9: 21,037,593	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,590,171	V81M	possibly damaging	Het
Ipmk	T	A	10: 71,381,294	F223I	probably damaging	Het
Itpr2	A	T	6: 146,373,208	N825K	probably benign	Het
Kazn	G	A	4: 142,109,338	T530I		Het
Kmt2d	C	T	15: 98,839,856	V5120M	unknown	Het
Krt6b	T	G	15: 101,679,014	D215A	probably benign	Het
Lgals12	T	C	19: 7,603,970	K124R	probably damaging	Het
Lpar6	T	A	14: 73,238,800	V67D	probably damaging	Het
Lrch3	T	C	16: 32,998,513	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,499,994	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,953,754	H161Q	probably benign	Het
Map3k19	A	G	1: 127,838,452	I245T	probably damaging	Het
Mcf2l	T	A	8: 13,019,022	*1119K	probably null	Het
Mertk	C	A	2: 128,729,393	A89E	possibly damaging	Het
Mical3	A	T	6: 121,034,113	Y375N	probably damaging	Het
Myo15	T	A	11: 60,483,483	D121E		Het
N4bp2l1	T	A	5: 150,576,293	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,194,597		probably null	Het
Nlrp12	A	T	7: 3,241,347	D178E	probably benign	Het
Nt5c2	C	A	19: 46,889,889	G444C	probably damaging	Het
Olfr38	T	A	6: 42,762,828	Y259N	probably damaging	Het
Olfr912	T	C	9: 38,581,468	F64L	probably benign	Het
Olfr978	T	A	9: 39,994,053	M81K	possibly damaging	Het
Pdcl2	A	C	5: 76,312,512	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,578,235	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,916,267	N979K		Het
Prkcb	A	T	7: 122,568,227	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,637,152		probably benign	Het
Sbf2	C	T	7: 110,314,064	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,423,631	T455P		Het
Sec24b	C	A	3: 130,009,865	V412F	probably benign	Het
Serpina3b	A	G	12: 104,132,886	N220S	probably benign	Het
Sgip1	C	T	4: 102,967,624	Q581*	probably null	Het
Shf	A	T	2: 122,359,582	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,141,996	T14M	probably benign	Het
Slc22a4	A	T	11: 53,997,428	M258K	probably benign	Het
Slfn8	A	T	11: 83,016,792	Y308*	probably null	Het
Slfnl1	T	C	4: 120,535,254	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,475,079	Y29C	probably damaging	Het
Snai1	C	A	2: 167,538,668		probably null	Het
Sntg1	T	C	1: 8,448,065	Y368C	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spop	G	A	11: 95,474,508	V126M	probably damaging	Het
Ssfa2	A	G	2: 79,644,728	K344E	possibly damaging	Het
Taar3	A	T	10: 23,949,817	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,496,802	M177I	probably benign	Het
Tcerg1l	A	G	7: 138,218,057	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,628,980	I435F	probably damaging	Het
Tiam2	A	G	17: 3,414,113	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,593,821	V15A	probably benign	Het
Tll2	T	C	19: 41,103,829	D523G	probably damaging	Het
Tmem117	A	G	15: 94,714,895	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,787,491	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,614,905	V132D	probably damaging	Het
Tomt	T	A	7: 101,900,508	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,242,222	M373V	probably damaging	Het
Ttn	G	A	2: 76,738,149	P27467S	possibly damaging	Het
Ttn	A	C	2: 76,742,786	V25921G	probably damaging	Het
Ubxn2a	A	C	12: 4,891,381	V75G	probably damaging	Het
Uchl5	A	T	1: 143,806,695	K319N	unknown	Het
Ugt2b1	T	C	5: 86,925,834	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,011,276	I10V	unknown	Het
Vps13b	T	C	15: 35,910,827	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,221,369	H443Q	probably benign	Het
Zfp316	A	G	5: 143,264,652	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,517,432	T160A	possibly 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
IGL01738:Ipcef1	APN	10	6890575	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
R7425:Ipcef1	UTSW	10	6956066	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGGGATTCATGACTTCC -3'
(R):5'- CAGACTGTCTGGAAACTTGGG -3'

Sequencing Primer
(F):5'- CATGACTTCCTGAGGGGTGAC -3'
(R):5'- ACTTGGGGGTGAATATATACAGCTTC -3'

Posted On

2019-10-07