Mutagenetix > Incidental Mutation

Incidental Mutation 'R7955:Erich3'

649759

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

045999-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7955 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 154444951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 376 (Q376*)

Ref Sequence

ENSEMBL: ENSMUSP00000062837 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

probably null
Transcript: ENSMUST00000051862
AA Change: Q376*

SMART Domains

Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: Q376*

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 null
Transcript: ENSMUST00000098496
AA Change: Q573*

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: Q573*

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: 98.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,764,613 (GRCm39)	V711D	probably damaging	Het
Adgrg5	G	A	8: 95,664,325 (GRCm39)	V312M		Het
Ankrd53	A	G	6: 83,744,845 (GRCm39)	T352A	probably benign	Het
Ano4	T	A	10: 88,831,088 (GRCm39)	M512L	probably null	Het
AW551984	A	G	9: 39,507,960 (GRCm39)	F392S	probably damaging	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Cldnd2	G	T	7: 43,091,120 (GRCm39)	L17F	possibly damaging	Het
Clvs2	T	C	10: 33,471,808 (GRCm39)	N166D	possibly damaging	Het
Cox10	A	T	11: 63,884,750 (GRCm39)	N218K	probably benign	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Daxx	T	A	17: 34,131,229 (GRCm39)	Y385*	probably null	Het
Dnmbp	T	C	19: 43,890,762 (GRCm39)	E335G	probably benign	Het
Flot2	A	G	11: 77,949,769 (GRCm39)		probably null	Het
Ganc	A	G	2: 120,261,181 (GRCm39)	T289A	probably damaging	Het
Gm19668	G	A	10: 77,634,630 (GRCm39)	T113I	unknown	Het
Gpm6a	A	G	8: 55,511,840 (GRCm39)	N238S	probably damaging	Het
Hps1	T	C	19: 42,759,221 (GRCm39)	T124A	probably damaging	Het
Larp4b	T	C	13: 9,186,816 (GRCm39)	V48A	probably benign	Het
Magi2	A	G	5: 20,594,070 (GRCm39)	H205R	probably damaging	Het
Map2	T	A	1: 66,452,875 (GRCm39)	S588R	probably damaging	Het
Mocos	A	G	18: 24,799,216 (GRCm39)	D150G	probably damaging	Het
Msl2	A	G	9: 100,979,354 (GRCm39)	D576G	possibly damaging	Het
Mybpc3	A	G	2: 90,956,401 (GRCm39)		probably null	Het
Myo3b	A	T	2: 69,925,623 (GRCm39)	Y58F	probably benign	Het
Ndst3	T	G	3: 123,400,586 (GRCm39)	K440T	probably benign	Het
Ndst4	T	A	3: 125,231,831 (GRCm39)	Y133*	probably null	Het
Nrcam	G	A	12: 44,631,737 (GRCm39)	V1097M	probably benign	Het
Or6z1	A	G	7: 6,505,078 (GRCm39)	I49T	possibly damaging	Het
Rabep1	A	G	11: 70,808,267 (GRCm39)	T408A	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sh2d4a	A	G	8: 68,781,907 (GRCm39)	K172E	probably benign	Het
Slc12a9	A	C	5: 137,323,808 (GRCm39)	L369R	probably damaging	Het
Slc30a1	T	C	1: 191,639,395 (GRCm39)	C93R	probably damaging	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tgm3	A	T	2: 129,880,400 (GRCm39)	Y402F	probably benign	Het
Tmem17	T	A	11: 22,468,490 (GRCm39)	I143K	possibly damaging	Het
Tmprss11f	A	C	5: 86,692,682 (GRCm39)	S81A	probably benign	Het
Trp53bp1	G	A	2: 121,066,225 (GRCm39)	P834S	possibly damaging	Het
Trpm4	C	A	7: 44,968,683 (GRCm39)	G417W	probably damaging	Het
Trpm6	A	T	19: 18,831,654 (GRCm39)	R1506S	probably benign	Het
Tspan18	A	G	2: 93,040,305 (GRCm39)	V150A	possibly damaging	Het
Ttc39d	T	C	17: 80,523,352 (GRCm39)	F4L	probably benign	Het
Zdhhc4	A	T	5: 143,307,619 (GRCm39)	L134H	probably damaging	Het
Zfp407	A	T	18: 84,577,416 (GRCm39)	S1232R	probably benign	Het
Zswim2	A	C	2: 83,747,227 (GRCm39)	F353V	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
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'- AGTAGTTGAAGCTCCCAGGC -3'
(R):5'- GACATCTTGCTAAAGTTCCCCAAAC -3'

Sequencing Primer
(F):5'- TGTCTTCATTGTTACACTGAAGC -3'
(R):5'- CTAAGGAAAACACGCTGACGAAG -3'

Posted On

2020-09-15