Mutagenetix > Incidental Mutation

Incidental Mutation 'R6172:Erich3'

488232

Institutional Source

Beutler Lab

Gene Symbol

Erich3

Ensembl Gene

ENSMUSG00000078161

Gene Name

glutamate rich 3

Synonyms

5031409G23Rik, 4922501L14Rik

MMRRC Submission

044315-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6172 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

154416770-154454649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154469978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 4 (T4A)

Ref Sequence

ENSEMBL: ENSMUSP00000140929 (fasta)

Gene Model

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

AlphaFold

F6QRE9

Predicted Effect

unknown
Transcript: ENSMUST00000098496
AA Change: T1477A

SMART Domains

Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: T1477A

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

possibly damaging
Transcript: ENSMUST00000189969
AA Change: T4A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140929
Gene: ENSMUSG00000078161
AA Change: T4A

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap42	A	T	9: 9,148,246 (GRCm39)	C108S	possibly damaging	Het
Bbs2	T	C	8: 94,814,039 (GRCm39)	E193G	probably benign	Het
Bpifb2	C	A	2: 153,732,332 (GRCm39)	H310Q	probably benign	Het
Cand2	A	G	6: 115,768,271 (GRCm39)	E472G	probably benign	Het
Cd81	A	G	7: 142,606,691 (GRCm39)		probably benign	Het
Chd5	A	T	4: 152,463,848 (GRCm39)	H1476L	probably damaging	Het
Clpx	C	A	9: 65,209,161 (GRCm39)	S92*	probably null	Het
Cstf3	T	C	2: 104,481,987 (GRCm39)	V276A	probably damaging	Het
Ehd4	G	A	2: 119,932,737 (GRCm39)	Q230*	probably null	Het
Erlin2	T	G	8: 27,526,123 (GRCm39)		probably null	Het
Exosc1	C	A	19: 41,912,442 (GRCm39)	Q148H	probably damaging	Het
Fbxw27	A	T	9: 109,601,337 (GRCm39)	V261E	probably damaging	Het
Flrt2	T	A	12: 95,746,305 (GRCm39)	N214K	probably damaging	Het
Foxp1	G	A	6: 98,992,471 (GRCm39)	Q41*	probably null	Het
Foxp1	C	A	6: 98,992,475 (GRCm39)		probably null	Het
Frk	T	C	10: 34,467,961 (GRCm39)	L325P	probably damaging	Het
Gm21698	T	C	5: 26,192,371 (GRCm39)	I72V	probably benign	Het
Gm39115	A	T	7: 141,689,651 (GRCm39)	C41S	unknown	Het
Hectd1	G	A	12: 51,816,065 (GRCm39)	P1336S	probably damaging	Het
Ighv7-1	T	C	12: 113,860,183 (GRCm39)	S70G	probably damaging	Het
Itga10	T	C	3: 96,554,753 (GRCm39)	I78T	probably benign	Het
Itgb4	A	G	11: 115,891,237 (GRCm39)	H1218R	probably benign	Het
Marchf6	A	T	15: 31,483,013 (GRCm39)	N463K	possibly damaging	Het
Muc5b	A	C	7: 141,412,513 (GRCm39)	T1820P	unknown	Het
Nfatc4	A	G	14: 56,066,990 (GRCm39)	T510A	possibly damaging	Het
Nwd2	G	T	5: 63,964,249 (GRCm39)	V1278F	probably damaging	Het
Or52n2c	A	C	7: 104,574,503 (GRCm39)	M156R	probably benign	Het
Or7g19	A	G	9: 18,856,042 (GRCm39)	T33A	probably benign	Het
P2rx1	G	A	11: 72,900,856 (GRCm39)	V209M	probably damaging	Het
Pkn1	T	C	8: 84,397,384 (GRCm39)	K874R	possibly damaging	Het
Plec	C	T	15: 76,056,576 (GRCm39)	V4444I	probably damaging	Het
Ppp1r37	A	T	7: 19,266,329 (GRCm39)	M479K	possibly damaging	Het
Prr11	A	C	11: 86,994,449 (GRCm39)	F66V	probably benign	Het
Rbbp5	A	G	1: 132,424,554 (GRCm39)	D268G	possibly damaging	Het
Rbbp6	T	A	7: 122,597,778 (GRCm39)	Y734*	probably null	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Rhou	A	G	8: 124,387,903 (GRCm39)	K212E	probably benign	Het
Rsph1	G	A	17: 31,492,392 (GRCm39)	T58I	probably benign	Het
Serpina3m	A	G	12: 104,355,486 (GRCm39)	N51S	probably damaging	Het
Shisa6	A	T	11: 66,108,832 (GRCm39)	D348E	probably benign	Het
Slc6a5	T	A	7: 49,598,081 (GRCm39)	Y648*	probably null	Het
Stag3	A	G	5: 138,298,105 (GRCm39)	D699G	probably benign	Het
Terf2ip	A	T	8: 112,744,649 (GRCm39)	D322V	probably damaging	Het
Vmn1r125	A	T	7: 21,006,275 (GRCm39)	M58L	probably benign	Het
Wdr49	T	A	3: 75,205,487 (GRCm39)	D643V	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
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
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'- GGAAGACCAGCCTTTGCAAG -3'
(R):5'- TTGGCGCCATATCCTCAGTG -3'

Sequencing Primer
(F):5'- TTTGCAAGCACAAAGAGAGGACATC -3'
(R):5'- GCTGCTGCTTCTCCTAGAG -3'

Posted On

2017-10-10