Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:Entr1'

224421

Institutional Source

Beutler Lab

Gene Symbol

Entr1

Ensembl Gene

ENSMUSG00000026927

Gene Name

endosome associated trafficking regulator 1

Synonyms

C330016H24Rik, Sdccag3, C630038K21Rik

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26272814-26279328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26273639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 374 (S374C)

Ref Sequence

ENSEMBL: ENSMUSP00000028293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028293] [ENSMUST00000035427] [ENSMUST00000077983] [ENSMUST00000114100] [ENSMUST00000114102] [ENSMUST00000114115] [ENSMUST00000139738]

AlphaFold

A2AIW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028293
AA Change: S374C

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

SMART Domains

Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
AA Change: S374C

Domain	Start	End	E-Value	Type
coiled coil region	209	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035427

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
low complexity region	33	52	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
coiled coil region	93	119	N/A	INTRINSIC
low complexity region	200	212	N/A	INTRINSIC
SANT	219	290	2.37e1	SMART
SANT	293	343	4.38e-10	SMART
SANT	345	397	3.05e-9	SMART
SANT	400	449	8.24e-15	SMART
SANT	452	501	7.8e-16	SMART
low complexity region	516	547	N/A	INTRINSIC
Blast:SANT	550	753	1e-23	BLAST
low complexity region	893	909	N/A	INTRINSIC
low complexity region	925	947	N/A	INTRINSIC
low complexity region	971	983	N/A	INTRINSIC
low complexity region	988	1007	N/A	INTRINSIC
low complexity region	1157	1169	N/A	INTRINSIC
low complexity region	1176	1190	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077983
AA Change: S351C

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
AA Change: S351C

Domain	Start	End	E-Value	Type
coiled coil region	186	298	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114100
AA Change: S401C

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

SMART Domains

Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
AA Change: S401C

Domain	Start	End	E-Value	Type
coiled coil region	236	348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114102
AA Change: S424C

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
AA Change: S424C

Domain	Start	End	E-Value	Type
coiled coil region	259	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114115

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
coiled coil region	3	29	N/A	INTRINSIC
low complexity region	41	60	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	101	127	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
SANT	227	298	2.37e1	SMART
SANT	301	351	4.38e-10	SMART
SANT	353	405	3.05e-9	SMART
SANT	408	457	8.24e-15	SMART
SANT	460	509	7.8e-16	SMART
low complexity region	524	555	N/A	INTRINSIC
Blast:SANT	558	761	1e-23	BLAST
low complexity region	901	917	N/A	INTRINSIC
low complexity region	933	955	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	996	1015	N/A	INTRINSIC
low complexity region	1165	1177	N/A	INTRINSIC
low complexity region	1184	1198	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130954

Predicted Effect

probably benign
Transcript: ENSMUST00000139738

SMART Domains

Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155643

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,406,536 (GRCm39)	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
B3galnt2	T	A	13: 14,140,909 (GRCm39)	F44I	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,568,530 (GRCm39)	S195P	probably damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Muc19	T	A	15: 91,776,599 (GRCm39)		noncoding transcript	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syne3	T	C	12: 104,924,386 (GRCm39)	M338V	probably benign	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Topors	T	C	4: 40,262,879 (GRCm39)	N135S	probably damaging	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	probably damaging	Het

Other mutations in Entr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02480:Entr1	APN	2	26,275,132 (GRCm39)	missense	probably damaging	0.98
IGL03293:Entr1	APN	2	26,277,688 (GRCm39)	splice site	probably benign
R0385:Entr1	UTSW	2	26,277,671 (GRCm39)	missense	possibly damaging	0.82
R1707:Entr1	UTSW	2	26,277,618 (GRCm39)	missense	probably damaging	1.00
R3743:Entr1	UTSW	2	26,278,655 (GRCm39)	intron	probably benign
R3977:Entr1	UTSW	2	26,274,805 (GRCm39)	missense	probably damaging	1.00
R4592:Entr1	UTSW	2	26,278,909 (GRCm39)	unclassified	probably benign
R5389:Entr1	UTSW	2	26,275,559 (GRCm39)	missense	probably damaging	1.00
R6030:Entr1	UTSW	2	26,276,983 (GRCm39)	missense	possibly damaging	0.71
R6030:Entr1	UTSW	2	26,276,983 (GRCm39)	missense	possibly damaging	0.71
R6381:Entr1	UTSW	2	26,275,093 (GRCm39)	critical splice donor site	probably null
R8277:Entr1	UTSW	2	26,274,778 (GRCm39)	missense	probably damaging	1.00
R9729:Entr1	UTSW	2	26,278,645 (GRCm39)	missense	unknown
R9752:Entr1	UTSW	2	26,276,990 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTATCGAACAGTGGGACTTC -3'
(R):5'- GAATCCAGTGTGGCAAACCTGG -3'

Sequencing Primer
(F):5'- TCGAACAGTGGGACTTCATGTAAAC -3'
(R):5'- GGCAAACCTGGTTGATAGCTC -3'

Posted On

2014-08-25