Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01141:Erich3'

50797

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01141

Quality Score

Status

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154419653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 249 (K249R)

Ref Sequence

ENSEMBL: ENSMUSP00000096097 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

probably benign
Transcript: ENSMUST00000051862
AA Change: K52R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: K52R

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

probably benign
Transcript: ENSMUST00000098496
AA Change: K249R

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: K249R

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: ENSMUST00000172865
AA Change: K249R

SMART Domains

Protein: ENSMUSP00000133995
Gene: ENSMUSG00000042943
AA Change: K249R

Domain	Start	End	E-Value	Type
Pfam:DUF4590	300	413	2.6e-58	PFAM
low complexity region	496	524	N/A	INTRINSIC
low complexity region	579	592	N/A	INTRINSIC
low complexity region	605	617	N/A	INTRINSIC
low complexity region	638	648	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192912

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,828,556 (GRCm39)	D1447E	probably damaging	Het
Atp2a3	T	C	11: 72,873,491 (GRCm39)	I788T	probably damaging	Het
Axin1	G	A	17: 26,409,015 (GRCm39)	E672K	probably damaging	Het
Ccno	A	G	13: 113,125,561 (GRCm39)	D175G	probably damaging	Het
Cep83	C	A	10: 94,624,619 (GRCm39)	T632K	probably benign	Het
Ckmt1	A	T	2: 121,193,474 (GRCm39)	I345F	probably benign	Het
Cntnap1	G	A	11: 101,069,633 (GRCm39)		probably benign	Het
Cstdc3	A	G	16: 36,128,426 (GRCm39)	E7G	probably benign	Het
Edem2	A	G	2: 155,550,948 (GRCm39)	Y340H	probably benign	Het
Fndc9	T	C	11: 46,128,526 (GRCm39)	I15T	probably benign	Het
Grip2	G	T	6: 91,759,878 (GRCm39)	Q300K	probably benign	Het
Herc2	T	C	7: 55,862,589 (GRCm39)	V4050A	possibly damaging	Het
Jup	A	T	11: 100,277,075 (GRCm39)	D44E	probably benign	Het
Lingo3	G	T	10: 80,671,147 (GRCm39)	P261Q	probably damaging	Het
Lrrfip2	C	T	9: 111,048,783 (GRCm39)	R311W	probably damaging	Het
Mansc1	C	A	6: 134,598,748 (GRCm39)	L56F	probably benign	Het
Map1b	A	G	13: 99,571,269 (GRCm39)	I484T	probably damaging	Het
Mpeg1	T	A	19: 12,440,149 (GRCm39)	F536I	probably damaging	Het
Mrgprb1	T	G	7: 48,097,775 (GRCm39)	T46P	probably benign	Het
Mug1	A	G	6: 121,847,458 (GRCm39)	N612S	probably benign	Het
Or5p56	T	C	7: 107,589,758 (GRCm39)	F62S	probably damaging	Het
Or6c212	T	A	10: 129,558,814 (GRCm39)	I200L	probably benign	Het
Pax8	A	G	2: 24,331,162 (GRCm39)	S178P	probably damaging	Het
Peak1	A	G	9: 56,165,811 (GRCm39)	F706L	probably benign	Het
Prkdc	A	G	16: 15,544,568 (GRCm39)	T1853A	probably damaging	Het
Reln	A	C	5: 22,174,031 (GRCm39)	F2024C	probably damaging	Het
Reln	G	T	5: 22,124,067 (GRCm39)	P2813Q	probably damaging	Het
Riox1	A	G	12: 83,998,568 (GRCm39)	Q368R	probably damaging	Het
Rspry1	T	C	8: 95,376,483 (GRCm39)	V335A	probably benign	Het
Scn3a	T	C	2: 65,325,457 (GRCm39)	N1020S	possibly damaging	Het
Scyl2	A	G	10: 89,476,497 (GRCm39)	V876A	probably benign	Het
Sdhaf3	T	A	6: 6,956,141 (GRCm39)	F39I	probably damaging	Het
Sfxn4	T	C	19: 60,839,452 (GRCm39)	E202G	possibly damaging	Het
Slc1a4	A	T	11: 20,258,644 (GRCm39)		probably benign	Het
Sln	A	G	9: 53,760,784 (GRCm39)	I10V	probably benign	Het
Ssh2	A	G	11: 77,340,552 (GRCm39)	E568G	probably damaging	Het
Supt7l	G	A	5: 31,675,779 (GRCm39)	P270S	probably benign	Het
Tanc2	A	G	11: 105,777,300 (GRCm39)		probably benign	Het
Tatdn1	A	T	15: 58,781,416 (GRCm39)		probably benign	Het
Tfip11	C	T	5: 112,477,369 (GRCm39)	P117L	possibly damaging	Het
Vpreb1a	T	C	16: 16,686,951 (GRCm39)	M9V	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
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
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

Posted On

2013-06-21