Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Ipcef1'

396053

Institutional Source

Beutler Lab

Gene Symbol

Ipcef1

Ensembl Gene

ENSMUSG00000064065

Gene Name

interaction protein for cytohesin exchange factors 1

Synonyms

A130090K04Rik

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6835779-6973185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6869950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 150 (I150T)

Ref Sequence

ENSEMBL: ENSMUSP00000128131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052751] [ENSMUST00000063036] [ENSMUST00000078070] [ENSMUST00000086896] [ENSMUST00000105601] [ENSMUST00000105611] [ENSMUST00000105615] [ENSMUST00000105617] [ENSMUST00000145156] [ENSMUST00000170680] [ENSMUST00000123861] [ENSMUST00000135502] [ENSMUST00000154941] [ENSMUST00000129221] [ENSMUST00000144264] [ENSMUST00000129954] [ENSMUST00000147171]

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 benign
Transcript: ENSMUST00000078070
AA Change: I201T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: I201T

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: ENSMUST00000086896
AA Change: I150T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000084110
Gene: ENSMUSG00000064065
AA Change: I150T

Domain	Start	End	E-Value	Type
Pfam:PH	3	65	7.4e-8	PFAM
low complexity region	85	106	N/A	INTRINSIC
low complexity region	195	210	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000149708

Predicted Effect

probably benign
Transcript: ENSMUST00000105617
AA Change: I197T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: I197T

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

noncoding transcript
Transcript: ENSMUST00000144622

Predicted Effect

probably benign
Transcript: ENSMUST00000145156
AA Change: I220T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114267
Gene: ENSMUSG00000064065
AA Change: I220T

Domain	Start	End	E-Value	Type
PH	37	137	5.87e-20	SMART
low complexity region	155	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170680
AA Change: I150T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128131
Gene: ENSMUSG00000064065
AA Change: I150T

Domain	Start	End	E-Value	Type
Pfam:PH	3	65	7.4e-8	PFAM
low complexity region	85	106	N/A	INTRINSIC
low complexity region	195	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154998

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: 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: 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

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: 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: 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: ENSMUST00000147171

SMART Domains

Protein: ENSMUSP00000117950
Gene: ENSMUSG00000000766

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Ipcef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Ipcef1	APN	10	6,840,551 (GRCm39)	missense	probably benign
IGL01018:Ipcef1	APN	10	6,869,968 (GRCm39)	missense	probably damaging	1.00
IGL01295:Ipcef1	APN	10	6,850,642 (GRCm39)	missense	probably damaging	1.00
IGL01738:Ipcef1	APN	10	6,840,575 (GRCm39)	missense	probably damaging	1.00
IGL03095:Ipcef1	APN	10	6,869,732 (GRCm39)	missense	probably damaging	1.00
R0001:Ipcef1	UTSW	10	6,850,600 (GRCm39)	missense	probably damaging	0.99
R0206:Ipcef1	UTSW	10	6,870,062 (GRCm39)	missense	probably damaging	1.00
R0208:Ipcef1	UTSW	10	6,870,062 (GRCm39)	missense	probably damaging	1.00
R1161:Ipcef1	UTSW	10	6,930,288 (GRCm39)	critical splice acceptor site	probably null
R1496:Ipcef1	UTSW	10	6,885,173 (GRCm39)	critical splice donor site	probably null
R1592:Ipcef1	UTSW	10	6,885,182 (GRCm39)	splice site	probably null
R1829:Ipcef1	UTSW	10	6,869,900 (GRCm39)	missense	probably benign	0.27
R1893:Ipcef1	UTSW	10	6,850,680 (GRCm39)	missense	probably damaging	1.00
R2107:Ipcef1	UTSW	10	6,840,501 (GRCm39)	missense	probably benign	0.01
R2160:Ipcef1	UTSW	10	6,840,650 (GRCm39)	missense	probably damaging	1.00
R2413:Ipcef1	UTSW	10	6,885,225 (GRCm39)	missense	probably damaging	1.00
R2655:Ipcef1	UTSW	10	6,929,657 (GRCm39)	missense	probably benign	0.02
R2886:Ipcef1	UTSW	10	6,850,641 (GRCm39)	missense	probably damaging	1.00
R4752:Ipcef1	UTSW	10	6,929,573 (GRCm39)	missense	probably damaging	1.00
R5800:Ipcef1	UTSW	10	6,840,569 (GRCm39)	missense	probably damaging	1.00
R5938:Ipcef1	UTSW	10	6,858,029 (GRCm39)	unclassified	probably benign
R5989:Ipcef1	UTSW	10	6,929,532 (GRCm39)	nonsense	probably null
R7397:Ipcef1	UTSW	10	6,922,244 (GRCm39)	makesense	probably null
R7414:Ipcef1	UTSW	10	6,840,673 (GRCm39)	nonsense	probably null
R7425:Ipcef1	UTSW	10	6,906,066 (GRCm39)	missense	probably damaging	1.00
R7859:Ipcef1	UTSW	10	6,840,569 (GRCm39)	missense	probably damaging	1.00
R7966:Ipcef1	UTSW	10	6,850,668 (GRCm39)	missense	probably damaging	1.00
R8255:Ipcef1	UTSW	10	6,870,007 (GRCm39)	missense	probably benign	0.10
R8964:Ipcef1	UTSW	10	6,869,789 (GRCm39)	missense	possibly damaging	0.60
R9276:Ipcef1	UTSW	10	6,857,936 (GRCm39)	unclassified	probably benign
R9280:Ipcef1	UTSW	10	6,850,736 (GRCm39)	missense	probably benign	0.42
R9359:Ipcef1	UTSW	10	6,840,663 (GRCm39)	missense	probably damaging	1.00
R9407:Ipcef1	UTSW	10	6,870,036 (GRCm39)	nonsense	probably null
R9526:Ipcef1	UTSW	10	6,840,620 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGCTCTGTCTGGGACTGTTAG -3'
(R):5'- TACAGAATTGAGTGCCACACAG -3'

Sequencing Primer
(F):5'- CTCTGTCTGGGACTGTTAGATGGTC -3'
(R):5'- GAATTGAGTGCCACACAGTTTTTCTC -3'

Posted On

2016-06-21