Mutagenetix > Incidental Mutation

Incidental Mutation 'R5596:Erich3'

486822

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

043148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154433033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 139 (T139S)

Ref Sequence

ENSEMBL: ENSMUSP00000062837 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000051862
AA Change: T139S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: T139S

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: T336S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: T336S

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

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,000,972 (GRCm39)	M1503V	possibly damaging	Het
Abraxas1	A	T	5: 100,966,403 (GRCm39)	V53D	probably damaging	Het
Bub1b	T	C	2: 118,461,463 (GRCm39)	S672P	probably damaging	Het
C1qtnf7	A	T	5: 43,673,313 (GRCm39)		probably benign	Het
Cacng7	A	T	7: 3,415,420 (GRCm39)	I262F	probably benign	Het
Capzb	T	G	4: 139,006,738 (GRCm39)		probably benign	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cfap69	A	G	5: 5,676,020 (GRCm39)	L225P	probably damaging	Het
Cftr	A	G	6: 18,268,095 (GRCm39)	T685A	probably benign	Het
Col12a1	G	A	9: 79,611,041 (GRCm39)	T177M	probably damaging	Het
Creb3l3	T	G	10: 80,920,881 (GRCm39)	D383A	probably benign	Het
Cyp2j8	T	A	4: 96,395,578 (GRCm39)	I16F	probably benign	Het
Dnah5	G	T	15: 28,343,754 (GRCm39)	A2385S	probably damaging	Het
Enox1	A	G	14: 77,816,493 (GRCm39)	I158V	probably benign	Het
Fam186b	A	T	15: 99,169,170 (GRCm39)	S926T	possibly damaging	Het
Gjd2	C	A	2: 113,841,965 (GRCm39)	V171F	possibly damaging	Het
Helz2	A	T	2: 180,879,082 (GRCm39)		probably benign	Het
Herc1	T	TTN	9: 66,341,345 (GRCm39)		probably benign	Het
Impg1	A	T	9: 80,252,500 (GRCm39)	V483E	probably benign	Het
Irx4	A	G	13: 73,415,799 (GRCm39)	N196S	probably damaging	Het
Kcnip1	T	C	11: 33,580,597 (GRCm39)	D213G	probably damaging	Het
Lmntd1	T	A	6: 145,359,140 (GRCm39)	T191S	probably benign	Het
Med12l	T	A	3: 59,159,771 (GRCm39)	N1273K	probably benign	Het
Musk	T	C	4: 58,373,036 (GRCm39)	C654R	probably damaging	Het
Nlrp4d	A	T	7: 10,115,951 (GRCm39)	S274T	noncoding transcript	Het
Omd	A	G	13: 49,745,814 (GRCm39)	H408R	probably benign	Het
Pbld2	C	T	10: 62,907,791 (GRCm39)	A219V	probably damaging	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Pramel32	C	T	4: 88,548,292 (GRCm39)	E38K	probably damaging	Het
Ptpn1	T	C	2: 167,816,683 (GRCm39)	I246T	probably damaging	Het
Sap18b	G	T	8: 96,551,998 (GRCm39)	A3S	unknown	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Sstr4	G	T	2: 148,237,652 (GRCm39)	V88F	possibly damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tmcc2	T	C	1: 132,288,221 (GRCm39)	N489D	probably damaging	Het
Tnfrsf9	T	C	4: 151,014,331 (GRCm39)	V10A	probably benign	Het
Tnxb	T	A	17: 34,907,778 (GRCm39)	V1274E	probably damaging	Het
Ube3b	T	A	5: 114,544,221 (GRCm39)		probably null	Het
Vwa5a	A	T	9: 38,633,874 (GRCm39)	I26F	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
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
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'- AAATGATGGTCCAGCACGTG -3'
(R):5'- TGCTCCCATACCTGTAGCAAG -3'

Sequencing Primer
(F):5'- ATGGTCCAGCACGTGTGAGATC -3'
(R):5'- TCCCATACCTGTAGCAAGGAGATG -3'

Posted On

2017-08-18