Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Erich3'

616352

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

4922501L14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154663859-154767790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154713916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 19 (S19P)

Ref Sequence

ENSEMBL: ENSMUSP00000062837 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

probably benign
Transcript: ENSMUST00000051862
AA Change: S19P

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: S19P

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

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: S216P

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	Het

Other mutations in Erich3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Erich3	APN	3	154748519	missense	probably benign	0.44
IGL01141:Erich3	APN	3	154714016	missense	probably benign	0.08
IGL01812:Erich3	APN	3	154713971	missense	possibly damaging	0.70
IGL02126:Erich3	APN	3	154713962	missense	possibly damaging	0.60
IGL03371:Erich3	APN	3	154727477	missense	probably damaging	0.97
IGL03386:Erich3	APN	3	154739239	missense	possibly damaging	0.80
FR4449:Erich3	UTSW	3	154763513	unclassified	probably benign
R0942:Erich3	UTSW	3	154739151	missense	probably benign	0.00
R1558:Erich3	UTSW	3	154714068	missense	probably damaging	0.99
R1582:Erich3	UTSW	3	154764323	unclassified	probably benign
R1674:Erich3	UTSW	3	154762623	unclassified	probably benign
R1676:Erich3	UTSW	3	154762623	unclassified	probably benign
R1724:Erich3	UTSW	3	154762327	missense	possibly damaging	0.89
R1757:Erich3	UTSW	3	154695765	missense	probably damaging	0.98
R1771:Erich3	UTSW	3	154748472	missense	possibly damaging	0.82
R2384:Erich3	UTSW	3	154764651	missense	possibly damaging	0.92
R2410:Erich3	UTSW	3	154733603	missense	probably damaging	0.98
R2507:Erich3	UTSW	3	154698659	missense	probably null	1.00
R3621:Erich3	UTSW	3	154748732	missense	possibly damaging	0.83
R3755:Erich3	UTSW	3	154764321	unclassified	probably benign
R3756:Erich3	UTSW	3	154764321	unclassified	probably benign
R3756:Erich3	UTSW	3	154764578	missense	possibly damaging	0.66
R3832:Erich3	UTSW	3	154762361	missense	probably damaging	0.97
R4020:Erich3	UTSW	3	154714049	missense	probably damaging	0.97
R4601:Erich3	UTSW	3	154764738	missense	unknown
R4628:Erich3	UTSW	3	154763687	missense	probably damaging	1.00
R4841:Erich3	UTSW	3	154704843	missense	possibly damaging	0.87
R4842:Erich3	UTSW	3	154704843	missense	possibly damaging	0.87
R4863:Erich3	UTSW	3	154764804	missense	unknown
R4989:Erich3	UTSW	3	154748388	missense	possibly damaging	0.85
R5310:Erich3	UTSW	3	154763580	missense	probably damaging	1.00
R5596:Erich3	UTSW	3	154727396	missense	probably damaging	0.99
R5695:Erich3	UTSW	3	154733573	missense	probably damaging	1.00
R5742:Erich3	UTSW	3	154733323	missense	probably damaging	1.00
R5859:Erich3	UTSW	3	154762497	missense	possibly damaging	0.90
R5916:Erich3	UTSW	3	154695823	missense	probably damaging	1.00
R6172:Erich3	UTSW	3	154764341	missense	possibly damaging	0.66
R6321:Erich3	UTSW	3	154727502	missense	probably damaging	1.00
R6438:Erich3	UTSW	3	154695753	missense	probably damaging	1.00
R6520:Erich3	UTSW	3	154763465	missense	probably damaging	0.98
R6679:Erich3	UTSW	3	154762429	missense	possibly damaging	0.81
R6697:Erich3	UTSW	3	154764270	unclassified	probably benign
R6800:Erich3	UTSW	3	154727392	critical splice acceptor site	probably null
R6823:Erich3	UTSW	3	154727437	missense	probably damaging	1.00
R6855:Erich3	UTSW	3	154762649	nonsense	probably null
R6989:Erich3	UTSW	3	154763677	unclassified	probably benign
R7400:Erich3	UTSW	3	154762577	missense
R7421:Erich3	UTSW	3	154733561	missense	probably damaging	1.00
R7520:Erich3	UTSW	3	154763126	missense	unknown
R7553:Erich3	UTSW	3	154733500	missense	probably benign	0.01
R7751:Erich3	UTSW	3	154763789	missense	unknown
R7768:Erich3	UTSW	3	154748331	missense	probably benign	0.00
R7955:Erich3	UTSW	3	154739314	nonsense	probably null
R8101:Erich3	UTSW	3	154733513	missense	probably damaging	0.99
R8108:Erich3	UTSW	3	154720115	missense	possibly damaging	0.91
R8162:Erich3	UTSW	3	154764573	missense	unknown
R8310:Erich3	UTSW	3	154704949	missense
R8360:Erich3	UTSW	3	154764354	missense	unknown
R8418:Erich3	UTSW	3	154709741	missense
R8490:Erich3	UTSW	3	154695824	missense
R8545:Erich3	UTSW	3	154762359	unclassified	probably benign
R8813:Erich3	UTSW	3	154763190	missense	unknown
R8944:Erich3	UTSW	3	154757055	missense
R8987:Erich3	UTSW	3	154709703	missense
R9036:Erich3	UTSW	3	154763249	missense	unknown
R9135:Erich3	UTSW	3	154762275	missense
R9175:Erich3	UTSW	3	154713964	missense	probably benign	0.02
R9284:Erich3	UTSW	3	154698671	missense
R9339:Erich3	UTSW	3	154763235	missense	unknown
R9626:Erich3	UTSW	3	154739093	missense	probably benign	0.10
Z1176:Erich3	UTSW	3	154698701	missense
Z1176:Erich3	UTSW	3	154762430	missense

Predicted Primers

PCR Primer
(F):5'- GATTTTCATAGGCAGGAGCATGC -3'
(R):5'- AAAGATCACGTTGGCCATAATCAC -3'

Sequencing Primer
(F):5'- CAGGAGCATGCGTTTTATCAGCC -3'
(R):5'- TTGGCCATAATCACCTTGGCAAAG -3'

Posted On

2020-01-23