Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Ipcef1'

719248

Institutional Source

Beutler Lab

Gene Symbol

Ipcef1

Ensembl Gene

ENSMUSG00000064065

Gene Name

interaction protein for cytohesin exchange factors 1

Synonyms

A130090K04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6835779-6973185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6840620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 363 (T363I)

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 damaging
Transcript: ENSMUST00000078070
AA Change: T363I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: T363I

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: T359I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: T359I

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	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
R5134:Ipcef1	UTSW	10	6,869,950 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- AGCAGAATGAATGCCCTTGG -3'
(R):5'- CACATTGGTAGTGTTGCAGCC -3'

Sequencing Primer
(F):5'- CCTTGGCAGCATCCTGTAGAATG -3'
(R):5'- AGTGTTGCAGCCCATGG -3'

Posted On

2022-07-18