Mutagenetix > Incidental Mutation

Incidental Mutation 'R0352:Eipr1'

65382

Institutional Source

Beutler Lab

Gene Symbol

Eipr1

Ensembl Gene

ENSMUSG00000036613

Gene Name

EARP complex and GARP complex interacting protein 1

Synonyms

D12Ertd604e, Tssc1

MMRRC Submission

038558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0352 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

28801802-28917493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28816784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 47 (D47G)

Ref Sequence

ENSEMBL: ENSMUSP00000038845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035657] [ENSMUST00000221555] [ENSMUST00000221877]

AlphaFold

Q8K0G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035657
AA Change: D47G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613
AA Change: D47G

Domain	Start	End	E-Value	Type
low complexity region	43	56	N/A	INTRINSIC
Blast:WD40	57	100	1e-18	BLAST
WD40	122	163	6.39e0	SMART
WD40	172	213	2.29e1	SMART
WD40	216	257	6.38e-7	SMART
WD40	261	301	4.38e-5	SMART
WD40	335	375	1.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221555
AA Change: D47G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221877
AA Change: D47G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.3368

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.4%
20x: 90.0%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,184,804 (GRCm39)	T64M	possibly damaging	Het
3110040N11Rik	G	T	7: 81,438,208 (GRCm39)	N49K	probably benign	Het
Adrb1	T	A	19: 56,711,293 (GRCm39)	F164I	probably damaging	Het
Aplf	C	T	6: 87,630,866 (GRCm39)	V190I	probably benign	Het
Aqr	A	G	2: 114,000,533 (GRCm39)	Y50H	probably damaging	Het
Arfgef3	A	C	10: 18,537,135 (GRCm39)	I182R	probably benign	Het
Cacna1b	G	A	2: 24,515,244 (GRCm39)		probably benign	Het
Casp9	A	G	4: 141,532,841 (GRCm39)	T246A	probably damaging	Het
Clcn6	A	G	4: 148,099,063 (GRCm39)	S427P	probably damaging	Het
Cnga1	T	C	5: 72,761,846 (GRCm39)	N556S	possibly damaging	Het
Cntnap2	G	A	6: 45,969,018 (GRCm39)		probably null	Het
Col11a2	T	G	17: 34,261,501 (GRCm39)	V120G	probably benign	Het
Cux2	A	C	5: 122,022,802 (GRCm39)		probably benign	Het
Dmrt2	T	C	19: 25,656,026 (GRCm39)	S542P	probably damaging	Het
Dnah7b	A	G	1: 46,316,286 (GRCm39)	H3133R	probably damaging	Het
Drosha	G	A	15: 12,837,374 (GRCm39)	R286Q	unknown	Het
Fras1	T	G	5: 96,874,399 (GRCm39)	Y2275D	probably damaging	Het
Grm4	C	T	17: 27,670,865 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,129,918 (GRCm39)	V100A	possibly damaging	Het
Hivep2	G	A	10: 14,019,039 (GRCm39)	V1937I	possibly damaging	Het
Hs3st6	T	C	17: 24,977,168 (GRCm39)	V216A	probably damaging	Het
Hsd17b4	T	C	18: 50,324,851 (GRCm39)	I688T	probably benign	Het
Hydin	T	C	8: 111,296,533 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,217,258 (GRCm39)	E426G	probably damaging	Het
Klrb1f	T	C	6: 129,030,680 (GRCm39)	S64P	probably damaging	Het
Lacc1	C	T	14: 77,272,629 (GRCm39)	G56R	probably damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lipm	C	T	19: 34,090,275 (GRCm39)		probably benign	Het
Lum	A	G	10: 97,404,471 (GRCm39)	H122R	probably damaging	Het
Magi2	A	G	5: 20,270,664 (GRCm39)	Y15C	probably damaging	Het
Mal	A	T	2: 127,482,286 (GRCm39)	I39N	probably damaging	Het
Mgme1	A	G	2: 144,118,319 (GRCm39)	H197R	probably benign	Het
Mmrn1	A	T	6: 60,921,955 (GRCm39)	K137N	probably benign	Het
Myh3	T	A	11: 66,981,254 (GRCm39)	C706S	possibly damaging	Het
Myo18b	A	T	5: 113,022,389 (GRCm39)		probably benign	Het
Myom1	A	G	17: 71,352,744 (GRCm39)	E356G	possibly damaging	Het
Nfib	A	G	4: 82,422,954 (GRCm39)		probably benign	Het
Npc1l1	T	C	11: 6,173,076 (GRCm39)	M788V	probably benign	Het
Or9a2	C	T	6: 41,749,058 (GRCm39)	M58I	probably damaging	Het
Pdha2	A	G	3: 140,917,457 (GRCm39)	V17A	probably benign	Het
Pgap1	A	T	1: 54,525,617 (GRCm39)		probably benign	Het
Polr1a	G	T	6: 71,897,747 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Pramel20	A	T	4: 143,297,878 (GRCm39)		probably benign	Het
Pramel21	A	T	4: 143,342,559 (GRCm39)	D222V	possibly damaging	Het
Prmt2	A	T	10: 76,044,337 (GRCm39)	V405D	possibly damaging	Het
Psg26	T	A	7: 18,209,181 (GRCm39)	Y409F	probably benign	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Ptges	G	T	2: 30,793,144 (GRCm39)	Y29*	probably null	Het
Ptrhd1	A	G	12: 4,286,399 (GRCm39)	T97A	probably benign	Het
Ripk3	T	A	14: 56,024,200 (GRCm39)		probably benign	Het
Rnf114	A	T	2: 167,353,136 (GRCm39)	I136F	probably benign	Het
Serinc5	A	G	13: 92,844,497 (GRCm39)		probably null	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc23a2	C	A	2: 131,902,716 (GRCm39)	M495I	probably benign	Het
Slc52a3	T	A	2: 151,849,433 (GRCm39)	L360*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Syt5	A	G	7: 4,544,170 (GRCm39)	V290A	probably benign	Het
Szt2	G	A	4: 118,239,790 (GRCm39)	A1931V	unknown	Het
Tasp1	A	G	2: 139,793,378 (GRCm39)		probably null	Het
Tcp10a	C	A	17: 7,593,805 (GRCm39)	D43E	probably damaging	Het
Tnfsf11	A	T	14: 78,516,408 (GRCm39)	Y187N	probably benign	Het
Tppp2	T	A	14: 52,156,807 (GRCm39)	N61K	possibly damaging	Het
Wwtr1	A	T	3: 57,482,548 (GRCm39)	W100R	probably damaging	Het
Zfp623	A	G	15: 75,820,433 (GRCm39)	D463G	probably benign	Het
Zfp990	A	G	4: 145,263,174 (GRCm39)	I57M	probably damaging	Het
Zmat5	G	A	11: 4,672,413 (GRCm39)	C10Y	probably damaging	Het

Other mutations in Eipr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Eipr1	APN	12	28,914,770 (GRCm39)	missense	probably damaging	1.00
hoss	UTSW	12	28,914,761 (GRCm39)	missense	probably damaging	1.00
R0331:Eipr1	UTSW	12	28,914,703 (GRCm39)	nonsense	probably null
R0433:Eipr1	UTSW	12	28,909,330 (GRCm39)	missense	possibly damaging	0.68
R1807:Eipr1	UTSW	12	28,816,838 (GRCm39)	missense	probably damaging	1.00
R1883:Eipr1	UTSW	12	28,816,850 (GRCm39)	missense	possibly damaging	0.82
R1926:Eipr1	UTSW	12	28,914,836 (GRCm39)	splice site	probably null
R1981:Eipr1	UTSW	12	28,913,024 (GRCm39)	missense	probably damaging	1.00
R2433:Eipr1	UTSW	12	28,913,042 (GRCm39)	missense	probably damaging	1.00
R2877:Eipr1	UTSW	12	28,810,091 (GRCm39)	missense	possibly damaging	0.70
R2970:Eipr1	UTSW	12	28,897,593 (GRCm39)	missense	probably benign	0.00
R2990:Eipr1	UTSW	12	28,909,267 (GRCm39)	missense	probably benign	0.06
R4412:Eipr1	UTSW	12	28,909,372 (GRCm39)	missense	probably damaging	1.00
R4463:Eipr1	UTSW	12	28,909,338 (GRCm39)	missense	probably damaging	1.00
R5087:Eipr1	UTSW	12	28,878,855 (GRCm39)	missense	probably benign	0.11
R5430:Eipr1	UTSW	12	28,913,015 (GRCm39)	missense	probably damaging	1.00
R5619:Eipr1	UTSW	12	28,917,078 (GRCm39)	missense	probably damaging	1.00
R6454:Eipr1	UTSW	12	28,914,761 (GRCm39)	missense	probably damaging	1.00
R6696:Eipr1	UTSW	12	28,909,357 (GRCm39)	missense	probably benign
R7038:Eipr1	UTSW	12	28,801,817 (GRCm39)	unclassified	probably benign
R7417:Eipr1	UTSW	12	28,916,954 (GRCm39)	missense	probably benign	0.04
R7808:Eipr1	UTSW	12	28,816,769 (GRCm39)	critical splice acceptor site	probably null
R8037:Eipr1	UTSW	12	28,914,676 (GRCm39)	missense	probably benign	0.00
R8175:Eipr1	UTSW	12	28,913,106 (GRCm39)	missense
R8942:Eipr1	UTSW	12	28,917,053 (GRCm39)	missense	probably damaging	1.00
R9778:Eipr1	UTSW	12	28,897,657 (GRCm39)	critical splice donor site	probably null
Z1176:Eipr1	UTSW	12	28,909,286 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GACTTGCCACTCTACCTTTGGGAAG -3'
(R):5'- TGGATACACAACTAACACGGCACTG -3'

Sequencing Primer
(F):5'- TCTTCAAAGGGATAGCAGCC -3'
(R):5'- CTACATGGCAGTTGATGACAC -3'

Posted On

2013-08-08