Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Eipr1'

260631

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

040465-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28801802-28917493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28810091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 22 (T22I)

Ref Sequence

ENSEMBL: ENSMUSP00000038845 (fasta)

Gene Model

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

AlphaFold

Q8K0G5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035657
AA Change: T22I

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613
AA Change: T22I

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: T22I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000221877
AA Change: T22I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0641

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110 (GRCm39)	M188T	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxa3	A	T	7: 18,748,805 (GRCm39)	M107K	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Kiz	T	C	2: 146,731,476 (GRCm39)	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,211,209 (GRCm39)	D293G	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,448,041 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Zcchc8	C	T	5: 123,838,766 (GRCm39)	V591I	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	probably benign	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
R0352:Eipr1	UTSW	12	28,816,784 (GRCm39)	missense	probably damaging	0.98
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
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'- TTCACGTACAGATTTGAAGTGC -3'
(R):5'- TGACATACACATGCACCTATGTAC -3'

Sequencing Primer
(F):5'- CGTACAGATTTGAAGTGCAATTGTG -3'
(R):5'- TGCACACGCATAAAGAAGAAACAG -3'

Posted On

2015-01-23