Mutagenetix > Incidental Mutation

Incidental Mutation 'R5742:Erich3'

501478

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

043352-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154438960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 398 (C398S)

Ref Sequence

ENSEMBL: ENSMUSP00000096097 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000051862
AA Change: C201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: C201S

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 damaging
Transcript: ENSMUST00000098496
AA Change: C398S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: C398S

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,056,379 (GRCm39)	A794T	possibly damaging	Het
Abca9	T	G	11: 110,051,243 (GRCm39)	E151A	probably damaging	Het
Abcb5	A	G	12: 118,881,992 (GRCm39)	V579A	probably damaging	Het
Apob	T	A	12: 8,057,191 (GRCm39)	L1858Q	probably damaging	Het
Cerk	C	T	15: 86,025,773 (GRCm39)	E223K	probably damaging	Het
Cntnap2	T	A	6: 45,897,860 (GRCm39)	Y179*	probably null	Het
Ddx60	A	T	8: 62,401,955 (GRCm39)	Y277F	probably benign	Het
Dlgap1	T	G	17: 71,025,194 (GRCm39)	V538G	probably benign	Het
Duox2	A	G	2: 122,115,402 (GRCm39)	I1050T	probably benign	Het
Dusp10	A	G	1: 183,769,853 (GRCm39)		probably null	Het
Dync2h1	T	A	9: 7,165,762 (GRCm39)	I500F	possibly damaging	Het
Fez1	G	A	9: 36,761,743 (GRCm39)		probably null	Het
Fkbp3	A	C	12: 65,116,812 (GRCm39)	H41Q	probably benign	Het
Fras1	C	G	5: 96,916,240 (GRCm39)	Q3425E	possibly damaging	Het
Fuca1	T	C	4: 135,650,286 (GRCm39)	V119A	probably damaging	Het
Grhl2	A	G	15: 37,328,616 (GRCm39)	K414R	probably damaging	Het
Heatr5a	A	T	12: 52,002,335 (GRCm39)	C200*	probably null	Het
Hmgcs2	A	G	3: 98,204,832 (GRCm39)	N330S	probably benign	Het
Hspd1	A	G	1: 55,123,766 (GRCm39)	V118A	probably benign	Het
Jmjd1c	A	G	10: 67,056,112 (GRCm39)	T511A	probably benign	Het
Kat6b	T	C	14: 21,718,503 (GRCm39)	S1061P	probably damaging	Het
Kcnh6	T	C	11: 105,899,968 (GRCm39)	V79A	probably benign	Het
Kel	C	T	6: 41,675,961 (GRCm39)	G243E	probably damaging	Het
Klc4	C	T	17: 46,953,197 (GRCm39)	R111Q	probably damaging	Het
Lrp1	T	C	10: 127,384,216 (GRCm39)	D3641G	probably damaging	Het
Map2k1	A	T	9: 64,101,053 (GRCm39)	D208E	probably damaging	Het
Masp1	T	A	16: 23,273,675 (GRCm39)	M588L	probably benign	Het
Mgl2	T	A	11: 70,027,510 (GRCm39)	N239K	probably benign	Het
Mki67	G	A	7: 135,306,102 (GRCm39)	T625M	probably benign	Het
Ndufb5	T	C	3: 32,801,930 (GRCm39)	Y112H	probably damaging	Het
Npr3	A	G	15: 11,883,494 (GRCm39)	S312P	probably damaging	Het
Nuf2	A	T	1: 169,344,191 (GRCm39)	I125N	probably damaging	Het
Obox1	G	A	7: 15,289,430 (GRCm39)	G73D	possibly damaging	Het
Odad4	G	A	11: 100,436,699 (GRCm39)	G25R	possibly damaging	Het
Or51a43	G	T	7: 103,717,412 (GRCm39)	H275Q	probably damaging	Het
Or8g19	T	A	9: 39,055,974 (GRCm39)	F193I	probably benign	Het
Pcdhb15	T	C	18: 37,607,820 (GRCm39)	S351P	probably damaging	Het
Phc2	G	T	4: 128,639,661 (GRCm39)	R121L	probably damaging	Het
Pla2g2a	A	G	4: 138,560,653 (GRCm39)	K87E	probably benign	Het
Plekhh2	T	A	17: 84,905,408 (GRCm39)	S1101T	probably damaging	Het
Ppp4r1	T	C	17: 66,144,741 (GRCm39)	I786T	probably damaging	Het
Prxl2a	T	C	14: 40,724,460 (GRCm39)	E57G	possibly damaging	Het
Ros1	A	T	10: 52,018,234 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,927,023 (GRCm39)	V863E	probably benign	Het
Trnt1	T	A	6: 106,755,878 (GRCm39)	L311*	probably null	Het
Vmn1r47	T	A	6: 89,999,500 (GRCm39)	L211M	probably damaging	Het
Zfp12	A	G	5: 143,230,945 (GRCm39)	E424G	probably damaging	Het
Zranb2	T	A	3: 157,246,340 (GRCm39)	Y17*	probably null	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
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'- GACTTATTACCTATGCGTCTACTTATG -3'
(R):5'- TGAGACACAAGACTCTTTCCTCTCC -3'

Sequencing Primer
(F):5'- GGTTGATGAGTGCTTTTAAAA -3'
(R):5'- CATCTCGTTCCTTTTCGATGGTG -3'

Posted On

2017-12-01