Mutagenetix > Incidental Mutation

Incidental Mutation 'R6679:Erich3'

527380

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

044798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154468066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 839 (D839E)

Ref Sequence

ENSEMBL: ENSMUSP00000096097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098496] [ENSMUST00000189969]

AlphaFold

F6QRE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098496
AA Change: D839E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: D839E

Domain	Start	End	E-Value	Type
internal_repeat_1	18	102	3.73e-10	PROSPERO
internal_repeat_1	155	240	3.73e-10	PROSPERO
low complexity region	501	514	N/A	INTRINSIC
low complexity region	756	773	N/A	INTRINSIC
low complexity region	792	809	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189969

SMART Domains

Protein: ENSMUSP00000140929
Gene: ENSMUSG00000078161

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,750 (GRCm39)	V299E	probably damaging	Het
Adgrb3	T	C	1: 25,170,377 (GRCm39)	I767V	probably benign	Het
Ahnak2	G	A	12: 112,739,410 (GRCm39)	T748I	probably damaging	Het
Aoc3	T	A	11: 101,222,279 (GRCm39)	L129M	probably damaging	Het
Arhgef7	T	A	8: 11,874,667 (GRCm39)	M540K	possibly damaging	Het
Bod1l	T	A	5: 41,974,009 (GRCm39)	K2435M	probably damaging	Het
Col11a1	A	G	3: 113,946,368 (GRCm39)		probably null	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Creb5	G	T	6: 53,662,454 (GRCm39)	M250I	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock10	A	G	1: 80,544,514 (GRCm39)	I557T	probably benign	Het
Efcab2	G	A	1: 178,264,969 (GRCm39)	A12T	probably benign	Het
Ehd1	A	G	19: 6,344,474 (GRCm39)	N245D	probably benign	Het
Fam13b	T	C	18: 34,620,075 (GRCm39)	T270A	possibly damaging	Het
Fat2	A	T	11: 55,200,131 (GRCm39)	L981Q	probably damaging	Het
Fgfrl1	G	A	5: 108,852,838 (GRCm39)	W89*	probably null	Het
Fgfrl1	G	T	5: 108,852,839 (GRCm39)	W89C	probably damaging	Het
Gm10770	G	A	2: 150,021,569 (GRCm39)	P11S	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,077,986 (GRCm39)	V190A	possibly damaging	Het
Htr1a	A	G	13: 105,581,936 (GRCm39)	N392S	probably damaging	Het
Ift43	A	G	12: 86,185,592 (GRCm39)	M59V	probably benign	Het
Jakmip2	T	C	18: 43,699,014 (GRCm39)	T482A	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme8	A	T	13: 19,875,140 (GRCm39)		probably null	Het
Or5h26	A	G	16: 58,988,209 (GRCm39)	I99T	probably benign	Het
Peg10	CCAACAACAACAACAACAACAACA	CCAACAACAACAACAACAACA	6: 4,754,276 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,058,015 (GRCm39)	F3996S	probably damaging	Het
Ppfia4	A	T	1: 134,237,417 (GRCm39)	Y961N	probably damaging	Het
Rag1	G	A	2: 101,474,629 (GRCm39)	P171L	probably damaging	Het
Rbm24	A	T	13: 46,572,468 (GRCm39)		probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rxfp3	T	C	15: 11,035,956 (GRCm39)	Y472C	probably damaging	Het
Sash1	T	A	10: 8,615,949 (GRCm39)	I638F	probably damaging	Het
Sh3glb2	G	A	2: 30,240,631 (GRCm39)	R145W	probably damaging	Het
Ston2	G	T	12: 91,614,870 (GRCm39)	P513T	probably damaging	Het
Sycp2	A	G	2: 178,022,721 (GRCm39)	M470T	probably damaging	Het
Syt10	C	A	15: 89,698,574 (GRCm39)	D257Y	probably damaging	Het
Tcfl5	G	T	2: 180,277,055 (GRCm39)	L447I	probably damaging	Het
Tlr11	T	C	14: 50,600,311 (GRCm39)	W766R	probably benign	Het
Usp33	T	A	3: 152,074,124 (GRCm39)	D19E	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,868 (GRCm39)	Y253*	probably null	Het
Wdr55	G	A	18: 36,896,177 (GRCm39)	G289D	probably damaging	Het
Zfp523	C	T	17: 28,421,194 (GRCm39)	T235M	probably damaging	Het

Other mutations in Erich3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Erich3	APN	3	154,454,156 (GRCm39)	missense	probably benign	0.44
IGL01141:Erich3	APN	3	154,419,653 (GRCm39)	missense	probably benign	0.08
IGL01812:Erich3	APN	3	154,419,608 (GRCm39)	missense	possibly damaging	0.70
IGL02126:Erich3	APN	3	154,419,599 (GRCm39)	missense	possibly damaging	0.60
IGL03371:Erich3	APN	3	154,433,114 (GRCm39)	missense	probably damaging	0.97
IGL03386:Erich3	APN	3	154,444,876 (GRCm39)	missense	possibly damaging	0.80
FR4449:Erich3	UTSW	3	154,469,150 (GRCm39)	unclassified	probably benign
R0942:Erich3	UTSW	3	154,444,788 (GRCm39)	missense	probably benign	0.00
R1558:Erich3	UTSW	3	154,419,705 (GRCm39)	missense	probably damaging	0.99
R1582:Erich3	UTSW	3	154,469,960 (GRCm39)	unclassified	probably benign
R1674:Erich3	UTSW	3	154,468,260 (GRCm39)	unclassified	probably benign
R1676:Erich3	UTSW	3	154,468,260 (GRCm39)	unclassified	probably benign
R1724:Erich3	UTSW	3	154,467,964 (GRCm39)	missense	possibly damaging	0.89
R1757:Erich3	UTSW	3	154,401,402 (GRCm39)	missense	probably damaging	0.98
R1771:Erich3	UTSW	3	154,454,109 (GRCm39)	missense	possibly damaging	0.82
R2384:Erich3	UTSW	3	154,470,288 (GRCm39)	missense	possibly damaging	0.92
R2410:Erich3	UTSW	3	154,439,240 (GRCm39)	missense	probably damaging	0.98
R2507:Erich3	UTSW	3	154,404,296 (GRCm39)	missense	probably null	1.00
R3621:Erich3	UTSW	3	154,454,369 (GRCm39)	missense	possibly damaging	0.83
R3755:Erich3	UTSW	3	154,469,958 (GRCm39)	unclassified	probably benign
R3756:Erich3	UTSW	3	154,470,215 (GRCm39)	missense	possibly damaging	0.66
R3756:Erich3	UTSW	3	154,469,958 (GRCm39)	unclassified	probably benign
R3832:Erich3	UTSW	3	154,467,998 (GRCm39)	missense	probably damaging	0.97
R4020:Erich3	UTSW	3	154,419,686 (GRCm39)	missense	probably damaging	0.97
R4601:Erich3	UTSW	3	154,470,375 (GRCm39)	missense	unknown
R4628:Erich3	UTSW	3	154,469,324 (GRCm39)	missense	probably damaging	1.00
R4841:Erich3	UTSW	3	154,410,480 (GRCm39)	missense	possibly damaging	0.87
R4842:Erich3	UTSW	3	154,410,480 (GRCm39)	missense	possibly damaging	0.87
R4863:Erich3	UTSW	3	154,470,441 (GRCm39)	missense	unknown
R4989:Erich3	UTSW	3	154,454,025 (GRCm39)	missense	possibly damaging	0.85
R5310:Erich3	UTSW	3	154,469,217 (GRCm39)	missense	probably damaging	1.00
R5596:Erich3	UTSW	3	154,433,033 (GRCm39)	missense	probably damaging	0.99
R5695:Erich3	UTSW	3	154,439,210 (GRCm39)	missense	probably damaging	1.00
R5742:Erich3	UTSW	3	154,438,960 (GRCm39)	missense	probably damaging	1.00
R5859:Erich3	UTSW	3	154,468,134 (GRCm39)	missense	possibly damaging	0.90
R5916:Erich3	UTSW	3	154,401,460 (GRCm39)	missense	probably damaging	1.00
R6172:Erich3	UTSW	3	154,469,978 (GRCm39)	missense	possibly damaging	0.66
R6321:Erich3	UTSW	3	154,433,139 (GRCm39)	missense	probably damaging	1.00
R6438:Erich3	UTSW	3	154,401,390 (GRCm39)	missense	probably damaging	1.00
R6520:Erich3	UTSW	3	154,469,102 (GRCm39)	missense	probably damaging	0.98
R6697:Erich3	UTSW	3	154,469,907 (GRCm39)	unclassified	probably benign
R6800:Erich3	UTSW	3	154,433,029 (GRCm39)	critical splice acceptor site	probably null
R6823:Erich3	UTSW	3	154,433,074 (GRCm39)	missense	probably damaging	1.00
R6855:Erich3	UTSW	3	154,468,286 (GRCm39)	nonsense	probably null
R6989:Erich3	UTSW	3	154,469,314 (GRCm39)	unclassified	probably benign
R7400:Erich3	UTSW	3	154,468,214 (GRCm39)	missense
R7421:Erich3	UTSW	3	154,439,198 (GRCm39)	missense	probably damaging	1.00
R7520:Erich3	UTSW	3	154,468,763 (GRCm39)	missense	unknown
R7553:Erich3	UTSW	3	154,439,137 (GRCm39)	missense	probably benign	0.01
R7751:Erich3	UTSW	3	154,469,426 (GRCm39)	missense	unknown
R7768:Erich3	UTSW	3	154,453,968 (GRCm39)	missense	probably benign	0.00
R7955:Erich3	UTSW	3	154,444,951 (GRCm39)	nonsense	probably null
R8001:Erich3	UTSW	3	154,419,553 (GRCm39)	missense	probably benign	0.21
R8101:Erich3	UTSW	3	154,439,150 (GRCm39)	missense	probably damaging	0.99
R8108:Erich3	UTSW	3	154,425,752 (GRCm39)	missense	possibly damaging	0.91
R8162:Erich3	UTSW	3	154,470,210 (GRCm39)	missense	unknown
R8310:Erich3	UTSW	3	154,410,586 (GRCm39)	missense
R8360:Erich3	UTSW	3	154,469,991 (GRCm39)	missense	unknown
R8418:Erich3	UTSW	3	154,415,378 (GRCm39)	missense
R8490:Erich3	UTSW	3	154,401,461 (GRCm39)	missense
R8545:Erich3	UTSW	3	154,467,996 (GRCm39)	unclassified	probably benign
R8813:Erich3	UTSW	3	154,468,827 (GRCm39)	missense	unknown
R8944:Erich3	UTSW	3	154,462,692 (GRCm39)	missense
R8987:Erich3	UTSW	3	154,415,340 (GRCm39)	missense
R9036:Erich3	UTSW	3	154,468,886 (GRCm39)	missense	unknown
R9135:Erich3	UTSW	3	154,467,912 (GRCm39)	missense
R9175:Erich3	UTSW	3	154,419,601 (GRCm39)	missense	probably benign	0.02
R9284:Erich3	UTSW	3	154,404,308 (GRCm39)	missense
R9339:Erich3	UTSW	3	154,468,872 (GRCm39)	missense	unknown
R9626:Erich3	UTSW	3	154,444,730 (GRCm39)	missense	probably benign	0.10
Z1176:Erich3	UTSW	3	154,468,067 (GRCm39)	missense
Z1176:Erich3	UTSW	3	154,404,338 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCTTCCCAGCCTGAGGATAC -3'
(R):5'- GGGGATGACAGGTACCATCTTC -3'

Sequencing Primer
(F):5'- TGCTGGCATAGATGTGGA -3'
(R):5'- ACATCCATGTTAGCATCCTGGGG -3'

Posted On

2018-07-23