Mutagenetix > Incidental Mutation

Incidental Mutation 'R1724:Erich3'

191660

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

039756-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154467964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 805 (D805E)

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: D805E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: D805E

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,881,306 (GRCm39)	V761A	probably benign	Het
Arap1	G	T	7: 101,049,733 (GRCm39)	A1032S	possibly damaging	Het
Atg4d	C	T	9: 21,179,741 (GRCm39)	H230Y	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bcdin3d	T	A	15: 99,368,561 (GRCm39)	K213*	probably null	Het
Cep295nl	T	A	11: 118,223,854 (GRCm39)	E330V	probably benign	Het
Col10a1	A	G	10: 34,271,714 (GRCm39)	Y562C	probably damaging	Het
Col9a2	G	A	4: 120,911,099 (GRCm39)	R578Q	probably damaging	Het
Creld1	A	G	6: 113,461,535 (GRCm39)	D85G	possibly damaging	Het
Cth	A	T	3: 157,619,364 (GRCm39)	V153D	probably damaging	Het
Dazap2	T	A	15: 100,515,884 (GRCm39)	Y71N	probably damaging	Het
Ddah1	A	C	3: 145,597,261 (GRCm39)	D269A	probably damaging	Het
Dhx9	A	C	1: 153,334,234 (GRCm39)	D975E	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Gabpb2	T	C	3: 95,113,826 (GRCm39)	D19G	probably damaging	Het
Gabrr1	T	A	4: 33,161,651 (GRCm39)	M325K	probably damaging	Het
Galntl5	T	G	5: 25,425,120 (GRCm39)	N379K	possibly damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Gm5356	G	A	8: 89,913,684 (GRCm39)		noncoding transcript	Het
Kifap3	C	T	1: 163,610,666 (GRCm39)	R49*	probably null	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lce1l	A	T	3: 92,757,726 (GRCm39)	V44E	unknown	Het
Lmbr1	T	A	5: 29,566,081 (GRCm39)	E48D	probably benign	Het
Nes	C	A	3: 87,884,748 (GRCm39)	N958K	probably benign	Het
Nwd1	A	C	8: 73,438,248 (GRCm39)	H1432P	probably damaging	Het
Or2d2b	G	A	7: 106,705,409 (GRCm39)	H220Y	probably benign	Het
Or52h9	T	C	7: 104,202,435 (GRCm39)	F103S	probably damaging	Het
Osgepl1	A	G	1: 53,357,062 (GRCm39)	T75A	probably benign	Het
Perm1	T	C	4: 156,302,529 (GRCm39)	S358P	possibly damaging	Het
Pramel14	C	T	4: 143,720,002 (GRCm39)	G121D	probably benign	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Sdc4	G	T	2: 164,273,206 (GRCm39)	Q35K	probably benign	Het
Secisbp2	A	G	13: 51,824,882 (GRCm39)	S377G	probably benign	Het
Spag16	G	C	1: 70,532,941 (GRCm39)	G540A	probably damaging	Het
Sun1	T	A	5: 139,221,480 (GRCm39)	D517E	probably benign	Het
Taf3	A	G	2: 9,957,177 (GRCm39)	V177A	probably benign	Het
Thbs2	A	G	17: 14,906,162 (GRCm39)	L246P	possibly damaging	Het
Tle7	C	A	8: 110,836,795 (GRCm39)	T227N	probably damaging	Het
Trpm1	G	T	7: 63,885,569 (GRCm39)	G862*	probably null	Het
Trpm8	A	T	1: 88,278,578 (GRCm39)	T584S	possibly damaging	Het
Ythdc2	T	C	18: 44,961,757 (GRCm39)	S2P	probably benign	Het
Zc2hc1c	G	T	12: 85,336,586 (GRCm39)	R81L	probably benign	Het
Zfp292	C	A	4: 34,811,237 (GRCm39)	L602F	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGCCATCAGCGCAAATGAG -3'
(R):5'- CCAGTTCCACATCCATGTCAGCATC -3'

Sequencing Primer
(F):5'- GCGCAAATGAGCAACCAG -3'
(R):5'- AGTTCTACATCCATGTCAGCATC -3'

Posted On

2014-05-14