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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) 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 (GRCm38)

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]

AlphaFold

Q5DU31

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

97% (98/101)

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	probably benign	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
R7397:Ipcef1	UTSW	10	6972244	makesense	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
R8964:Ipcef1	UTSW	10	6919789	missense	possibly damaging	0.60
R9280:Ipcef1	UTSW	10	6900736	missense	probably benign	0.42
R9359:Ipcef1	UTSW	10	6890663	missense	probably damaging	1.00
R9407:Ipcef1	UTSW	10	6920036

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