Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Glod4'

332874

Institutional Source

Beutler Lab

Gene Symbol

Glod4

Ensembl Gene

ENSMUSG00000017286

Gene Name

glyoxalase domain containing 4

Synonyms

1700082G03Rik, 2700085E05Rik

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76120987-76243725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76243571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 25 (D25V)

Ref Sequence

ENSEMBL: ENSMUSP00000132496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017430] [ENSMUST00000040577] [ENSMUST00000168055] [ENSMUST00000169701] [ENSMUST00000170017] [ENSMUST00000170590] [ENSMUST00000170710]

AlphaFold

Q9CPV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017430
AA Change: D25V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
AA Change: D25V

Domain	Start	End	E-Value	Type
Pfam:Glyoxalase_2	143	256	1.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040577

SMART Domains

Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046

Domain	Start	End	E-Value	Type
SpoU_sub_bind	124	195	1.99e-5	SMART
Pfam:SpoU_methylase	209	398	2.3e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125463

Predicted Effect

probably benign
Transcript: ENSMUST00000164022

SMART Domains

Protein: ENSMUSP00000126699
Gene: ENSMUSG00000017286

Domain	Start	End	E-Value	Type
PDB:3ZI1\|A	2	212	1e-143	PDB
SCOP:d1mpya1	119	198	4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167883

Predicted Effect

probably benign
Transcript: ENSMUST00000168055

SMART Domains

Protein: ENSMUSP00000130675
Gene: ENSMUSG00000017286

Domain	Start	End	E-Value	Type
PDB:3ZI1\|A	2	98	3e-61	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169701
AA Change: D25V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
AA Change: D25V

Domain	Start	End	E-Value	Type
Pfam:Glyoxalase_2	143	256	2.7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170017
AA Change: D25V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286
AA Change: D25V

Domain	Start	End	E-Value	Type
SCOP:d1qipa_	1	40	3e-5	SMART
PDB:3ZI1\|A	1	47	4e-25	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000170590
AA Change: D25V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286
AA Change: D25V

Domain	Start	End	E-Value	Type
PDB:3ZI1\|A	1	47	2e-23	PDB
SCOP:d1mpya2	1	66	1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170710

SMART Domains

Protein: ENSMUSP00000131788
Gene: ENSMUSG00000017286

Domain	Start	End	E-Value	Type
Pfam:Glyoxalase_2	124	237	6.1e-9	PFAM

Meta Mutation Damage Score

0.5838

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Glod4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Glod4	APN	11	76233278	missense	probably benign	0.08
IGL01099:Glod4	APN	11	76239550	nonsense	probably null
IGL01761:Glod4	APN	11	76243602	missense	probably benign	0.00
FR4548:Glod4	UTSW	11	76243310	start gained	probably benign
R1354:Glod4	UTSW	11	76237828	splice site	probably null
R1386:Glod4	UTSW	11	76222003	nonsense	probably null
R1791:Glod4	UTSW	11	76237708	missense	probably damaging	1.00
R2281:Glod4	UTSW	11	76237809	missense	possibly damaging	0.74
R2484:Glod4	UTSW	11	76239518	missense	probably damaging	1.00
R4517:Glod4	UTSW	11	76243571	missense	probably damaging	1.00
R4519:Glod4	UTSW	11	76243571	missense	probably damaging	1.00
R5945:Glod4	UTSW	11	76234471	missense	probably damaging	1.00
R6471:Glod4	UTSW	11	76233918	missense	probably damaging	1.00
R6488:Glod4	UTSW	11	76237785	missense	probably damaging	0.96
R6976:Glod4	UTSW	11	76243580	missense	probably damaging	1.00
R8263:Glod4	UTSW	11	76234492	missense	possibly damaging	0.80
R9287:Glod4	UTSW	11	76237684	missense	probably benign
R9655:Glod4	UTSW	11	76234466	missense	probably benign	0.00
Z1186:Glod4	UTSW	11	76242993	critical splice donor site	probably null
Z1186:Glod4	UTSW	11	76243010	missense	probably benign
Z1187:Glod4	UTSW	11	76242993	critical splice donor site	probably null
Z1187:Glod4	UTSW	11	76243010	missense	probably benign
Z1187:Glod4	UTSW	11	76243604	missense	probably benign	0.00
Z1187:Glod4	UTSW	11	76243605	missense	probably benign
Z1188:Glod4	UTSW	11	76242993	critical splice donor site	probably null
Z1188:Glod4	UTSW	11	76243010	missense	probably benign
Z1188:Glod4	UTSW	11	76243604	missense	probably benign	0.00
Z1188:Glod4	UTSW	11	76243605	missense	probably benign
Z1189:Glod4	UTSW	11	76242993	critical splice donor site	probably null
Z1189:Glod4	UTSW	11	76243010	missense	probably benign
Z1189:Glod4	UTSW	11	76243604	missense	probably benign	0.00
Z1189:Glod4	UTSW	11	76243605	missense	probably benign
Z1190:Glod4	UTSW	11	76242993	critical splice donor site	probably null
Z1190:Glod4	UTSW	11	76243010	missense	probably benign
Z1190:Glod4	UTSW	11	76243310	start gained	probably benign
Z1190:Glod4	UTSW	11	76243604	missense	probably benign	0.00
Z1190:Glod4	UTSW	11	76243605	missense	probably benign
Z1192:Glod4	UTSW	11	76242993	critical splice donor site	probably null
Z1192:Glod4	UTSW	11	76243010	missense	probably benign
Z1192:Glod4	UTSW	11	76243604	missense	probably benign	0.00
Z1192:Glod4	UTSW	11	76243605	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCAAAGGCTTCCCAACCCG -3'
(R):5'- GAGGGAGACAACACTCTCAC -3'

Sequencing Primer
(F):5'- GCTTCCCAACCCGAAAGAGG -3'
(R):5'- CAGCAATGATCCCAGGGAGC -3'

Posted On

2015-08-18