Mutagenetix > Incidental Mutation

Incidental Mutation 'R3756:Erich3'

271430

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 154469958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140929 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

unknown
Transcript: ENSMUST00000098496
AA Change: E1470G

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: E1470G

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

0.1499

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,963,119 (GRCm39)	C805R	probably benign	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Atp7a	T	A	X: 105,145,449 (GRCm39)		probably null	Het
Cdc16	T	C	8: 13,827,609 (GRCm39)		probably null	Het
Cdh26	T	A	2: 178,111,794 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,495,566 (GRCm39)	S273T	probably damaging	Het
Cyb5d1	G	T	11: 69,284,658 (GRCm39)	R165S	probably damaging	Het
Ddhd1	T	C	14: 45,848,030 (GRCm39)	K546R	probably benign	Het
Ddhd1	A	T	14: 45,894,720 (GRCm39)	V250E	probably damaging	Het
Dnm1l	G	T	16: 16,139,476 (GRCm39)	A406D	possibly damaging	Het
Efs	G	A	14: 55,157,879 (GRCm39)		probably benign	Het
Ephb1	A	C	9: 101,918,238 (GRCm39)	S424A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gm9970	G	C	5: 31,398,117 (GRCm39)		probably benign	Het
H2az2	A	G	11: 6,383,761 (GRCm39)	V53A	possibly damaging	Het
Inpp5d	G	A	1: 87,629,130 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,061,284 (GRCm39)	S256P	possibly damaging	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Mtss2	C	T	8: 111,456,692 (GRCm39)	S192L	probably damaging	Het
Myh8	G	A	11: 67,175,443 (GRCm39)		probably benign	Het
Myom2	T	A	8: 15,152,650 (GRCm39)	Y666N	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pitrm1	T	C	13: 6,608,271 (GRCm39)	L333P	probably damaging	Het
Plxnb1	G	T	9: 108,942,526 (GRCm39)		probably benign	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Rbmx2	T	A	X: 47,797,890 (GRCm39)	S143T	possibly damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Rxra	A	C	2: 27,631,923 (GRCm39)	Q198P	probably damaging	Het
Slc25a36	A	T	9: 96,982,208 (GRCm39)	Y42*	probably null	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Tmem86b	A	G	7: 4,631,623 (GRCm39)	L138P	probably damaging	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Vmn1r39	T	C	6: 66,781,863 (GRCm39)	S152G	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfp35	T	C	18: 24,135,982 (GRCm39)	C109R	possibly 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
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
R6679:Erich3	UTSW	3	154,468,066 (GRCm39)	missense	possibly damaging	0.81
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'- CCTGGACCTGAAGCAGACAAAG -3'
(R):5'- TTTGAGCATTTGCAGCGGAAG -3'

Sequencing Primer
(F):5'- ACCAGAGGGCTTTTTCACAG -3'
(R):5'- CATTTGCAGCGGAAGAGGCC -3'

Posted On

2015-03-18