Mutagenetix > Incidental Mutation

Incidental Mutation 'R8418:Erich3'

653027

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

067897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 154415378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 165 (R165C)

Ref Sequence

ENSEMBL: ENSMUSP00000096097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051862] [ENSMUST00000098496]

AlphaFold

F6QRE9

Predicted Effect

probably benign
Transcript: ENSMUST00000051862

SMART Domains

Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:DUF4590	102	217	9.8e-62	PFAM
low complexity region	299	327	N/A	INTRINSIC
low complexity region	382	395	N/A	INTRINSIC
low complexity region	408	420	N/A	INTRINSIC
low complexity region	441	451	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: R165C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,021,477 (GRCm39)	H449R	probably benign	Het
Arfgef2	T	C	2: 166,698,468 (GRCm39)	V646A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc62	C	T	5: 124,084,455 (GRCm39)	R279*	probably null	Het
Cimip2b	A	G	4: 43,427,204 (GRCm39)	L76P	unknown	Het
Col6a5	G	T	9: 105,755,821 (GRCm39)	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,276,315 (GRCm39)	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,260,398 (GRCm39)	N82D	possibly damaging	Het
Dcaf17	T	A	2: 70,918,717 (GRCm39)	D430E	probably damaging	Het
Dcst2	T	C	3: 89,278,901 (GRCm39)	V546A	probably benign	Het
Dennd1a	T	C	2: 37,748,403 (GRCm39)	T359A	probably benign	Het
Dgkb	C	A	12: 38,380,016 (GRCm39)	H591N	probably damaging	Het
Dnah17	G	A	11: 117,994,284 (GRCm39)	S1047F	probably benign	Het
Dock2	A	G	11: 34,609,795 (GRCm39)	I215T	probably benign	Het
Efcab12	A	G	6: 115,799,076 (GRCm39)		probably null	Het
Gabrr1	C	T	4: 33,162,615 (GRCm39)	R394*	probably null	Het
Garnl3	G	T	2: 32,942,158 (GRCm39)	Q153K	possibly damaging	Het
Gars1	A	G	6: 55,042,446 (GRCm39)	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,309,466 (GRCm39)	E192D	probably benign	Het
Gm28360	A	T	1: 117,781,357 (GRCm39)	H116L	probably benign	Het
Gm9602	T	A	14: 15,935,348 (GRCm39)		probably benign	Het
Gp1bb	T	A	16: 18,440,103 (GRCm39)	H5L	unknown	Het
Grik3	A	G	4: 125,579,835 (GRCm39)	K527E	possibly damaging	Het
Hhip	T	C	8: 80,771,714 (GRCm39)	M199V	probably damaging	Het
Irgm1	A	G	11: 48,757,166 (GRCm39)	V231A	probably damaging	Het
Itgal	A	T	7: 126,929,454 (GRCm39)	I1124F	probably benign	Het
Kash5	A	G	7: 44,843,501 (GRCm39)	L241P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Miga1	T	G	3: 151,990,954 (GRCm39)	Y433S	probably damaging	Het
Muc16	A	T	9: 18,430,926 (GRCm39)	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,706,662 (GRCm39)	V230G	possibly damaging	Het
Or52ab2	A	G	7: 102,970,278 (GRCm39)	Y220C		Het
Ptpn2	G	A	18: 67,814,592 (GRCm39)	T139M	probably damaging	Het
Pum2	T	A	12: 8,760,245 (GRCm39)	D145E	possibly damaging	Het
Radil	T	C	5: 142,480,676 (GRCm39)	E593G	probably benign	Het
Rdh14	T	C	12: 10,444,580 (GRCm39)	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Serpina6	T	C	12: 103,613,187 (GRCm39)	Y371C	probably damaging	Het
Snx13	T	A	12: 35,148,233 (GRCm39)	I254N	probably damaging	Het
Tacc1	T	C	8: 25,731,532 (GRCm39)	K7E	probably damaging	Het
Thoc2l	C	A	5: 104,667,724 (GRCm39)	Q749K	possibly damaging	Het
Timeless	A	C	10: 128,086,605 (GRCm39)	N1048T	probably benign	Het
Tll2	C	A	19: 41,081,276 (GRCm39)	E732D	probably damaging	Het
Tmem171	A	G	13: 98,828,740 (GRCm39)	S137P	probably damaging	Het
Ttll3	A	T	6: 113,371,734 (GRCm39)	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,244,939 (GRCm39)	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,258,583 (GRCm39)	L210*	probably null	Het
Vmn2r60	A	G	7: 41,844,850 (GRCm39)	I738V	probably damaging	Het
Zfp977	T	A	7: 42,229,410 (GRCm39)	M372L	probably benign	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
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
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'- TAACAAATACTTTGGGGTCAGAAGG -3'
(R):5'- AGTGCTCCGTGAACGTACAG -3'

Sequencing Primer
(F):5'- TTGGGGTCAGAAGGGTAGATATAATG -3'
(R):5'- GAACGTACAGTGCAAGTTTCCCTG -3'

Posted On

2020-10-20