Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Erich3'

271378

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

040738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 154469958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098496] [ENSMUST00000189969]

AlphaFold

F6QRE9

Predicted Effect

unknown
Transcript: ENSMUST00000098496
AA Change: E1470G

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: E1470G

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

0.1499

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,098,110 (GRCm39)	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,797,403 (GRCm39)	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,814,587 (GRCm39)	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Bace2	C	G	16: 97,237,857 (GRCm39)	T436R	probably benign	Het
Capn13	G	A	17: 73,638,114 (GRCm39)	Q430*	probably null	Het
Ccdc30	A	T	4: 119,225,005 (GRCm39)		probably null	Het
Ces5a	T	C	8: 94,255,130 (GRCm39)	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,411,594 (GRCm39)	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,340,961 (GRCm39)	I146N	possibly damaging	Het
Etl4	G	A	2: 20,748,348 (GRCm39)	V27I	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fsip2	G	A	2: 82,808,561 (GRCm39)	D1627N	probably benign	Het
Gcdh	A	G	8: 85,620,109 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,058,369 (GRCm39)	F219L	probably benign	Het
Kdm3b	T	C	18: 34,941,349 (GRCm39)	L280S	probably benign	Het
Knl1	T	A	2: 118,933,060 (GRCm39)	V2073D	probably damaging	Het
Kprp	A	G	3: 92,732,346 (GRCm39)	S235P	unknown	Het
Lpp	A	G	16: 24,663,911 (GRCm39)	H396R	probably benign	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mcm9	T	C	10: 53,502,048 (GRCm39)	N179S	probably benign	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Nfib	A	T	4: 82,241,936 (GRCm39)	S418R	probably damaging	Het
Or52b1	A	G	7: 104,979,358 (GRCm39)	F14L	probably damaging	Het
Or8s2	A	C	15: 98,276,463 (GRCm39)	I176S	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pkd1l3	C	T	8: 110,359,171 (GRCm39)	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,802 (GRCm39)	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,816,143 (GRCm39)	I219T	probably damaging	Het
Rad18	T	C	6: 112,670,432 (GRCm39)	N44S	probably damaging	Het
Reep5	T	C	18: 34,505,527 (GRCm39)	Y48C	probably damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,604,728 (GRCm39)	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Snap23	T	A	2: 120,416,726 (GRCm39)	C79S	probably damaging	Het
Spag6l	A	C	16: 16,580,884 (GRCm39)		probably null	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Trav4-3	C	A	14: 53,836,596 (GRCm39)	S20R	probably benign	Het
Tssk2	G	A	16: 17,716,827 (GRCm39)	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482 (GRCm39)	F1051S	probably damaging	Het
Ugt3a1	A	G	15: 9,367,498 (GRCm39)	T414A	probably benign	Het
Urod	C	T	4: 116,850,601 (GRCm39)	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,449,271 (GRCm39)	K62E	probably damaging	Het
Wiz	A	G	17: 32,578,106 (GRCm39)	S460P	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb7a	C	T	10: 80,980,100 (GRCm39)	T98M	probably damaging	Het
Zfp524	C	A	7: 5,020,884 (GRCm39)	H137Q	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
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'- CCTGGACCTGAAGCAGACAAAG -3'
(R):5'- TTGAGCATTTGCAGCGGAAG -3'

Sequencing Primer
(F):5'- ACCAGAGGGCTTTTTCACAG -3'
(R):5'- CATTTGCAGCGGAAGAGGCC -3'

Posted On

2015-03-18