Incidental Mutation 'IGL00337:Mtmr4'
ID4522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr4
Ensembl Gene ENSMUSG00000018401
Gene Namemyotubularin related protein 4
SynonymsZFYVE11, FYVE zinc finger phosphatase, ESTM44, FYVE-DSP2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL00337
Quality Score
Status
Chromosome11
Chromosomal Location87592162-87616302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87611924 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 878 (H878Y)
Ref Sequence ENSEMBL: ENSMUSP00000090478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000119628]
Predicted Effect probably benign
Transcript: ENSMUST00000092802
AA Change: H878Y

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: H878Y

DomainStartEndE-ValueType
Pfam:Myotub-related 126 507 4.2e-137 PFAM
low complexity region 933 945 N/A INTRINSIC
coiled coil region 961 991 N/A INTRINSIC
FYVE 1044 1113 2.08e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103179
AA Change: H935Y

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: H935Y

DomainStartEndE-ValueType
Pfam:Myotub-related 126 521 8.1e-149 PFAM
low complexity region 990 1002 N/A INTRINSIC
coiled coil region 1018 1048 N/A INTRINSIC
FYVE 1101 1170 2.08e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119628
AA Change: H935Y

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: H935Y

DomainStartEndE-ValueType
Pfam:Myotub-related 127 519 1.5e-135 PFAM
low complexity region 990 1002 N/A INTRINSIC
coiled coil region 1018 1048 N/A INTRINSIC
FYVE 1101 1170 2.08e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A C 3: 127,820,751 probably benign Het
Ap1ar A T 3: 127,820,752 probably benign Het
Apip A T 2: 103,091,912 T208S probably benign Het
Arhgap11a A G 2: 113,841,942 V227A probably damaging Het
Atrn G T 2: 130,958,079 V459F probably damaging Het
Cep295 T C 9: 15,326,072 probably null Het
Cfhr1 A G 1: 139,556,515 probably benign Het
D5Ertd615e A G 5: 45,163,427 noncoding transcript Het
Dhx29 A G 13: 112,964,603 I1227V probably benign Het
Fam98a T C 17: 75,551,747 D16G probably damaging Het
Frk A G 10: 34,484,243 D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 H354Q probably damaging Het
Ggps1 G A 13: 14,054,388 S70L probably damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hpx T C 7: 105,591,770 Y432C probably damaging Het
Hyal2 T C 9: 107,572,172 C376R probably damaging Het
Il10rb G A 16: 91,406,339 A8T probably benign Het
Ing5 G T 1: 93,806,094 M1I probably null Het
Kcnc4 C T 3: 107,447,873 D420N probably benign Het
Kcnj8 T C 6: 142,570,235 N49D probably damaging Het
Kif26b C A 1: 178,915,648 A656D probably damaging Het
Klc4 T C 17: 46,635,435 E488G probably damaging Het
Ndufaf7 T C 17: 78,947,091 probably benign Het
Nlrp14 T G 7: 107,182,101 D168E possibly damaging Het
Ogdhl T C 14: 32,333,712 F251S probably damaging Het
Olfr59 T C 11: 74,289,387 V247A probably damaging Het
P2rx5 A T 11: 73,167,492 probably null Het
Parp14 G A 16: 35,841,075 T1501I probably benign Het
Prl3c1 C A 13: 27,200,763 T85K probably damaging Het
Psg27 A G 7: 18,561,804 Y239H probably damaging Het
Pzp T C 6: 128,516,909 R300G probably benign Het
Sec16a A G 2: 26,439,487 S839P probably benign Het
Sphkap T A 1: 83,339,608 D56V probably damaging Het
Srrt C T 5: 137,295,978 probably benign Het
Sstr3 T A 15: 78,540,467 T27S probably benign Het
Taf1d C A 9: 15,311,603 S255Y probably damaging Het
Tbc1d15 C A 10: 115,209,641 E473* probably null Het
Tmem247 T C 17: 86,917,535 V24A probably benign Het
Txnrd2 T C 16: 18,477,769 C494R probably damaging Het
Zfp180 A G 7: 24,085,469 D5G probably damaging Het
Other mutations in Mtmr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Mtmr4 APN 11 87604067 missense probably damaging 1.00
IGL01317:Mtmr4 APN 11 87602404 unclassified probably benign
IGL01544:Mtmr4 APN 11 87597611 splice site probably benign
IGL01574:Mtmr4 APN 11 87600647 missense probably benign 0.01
IGL01807:Mtmr4 APN 11 87604150 missense possibly damaging 0.55
IGL02059:Mtmr4 APN 11 87601124 missense possibly damaging 0.66
IGL03049:Mtmr4 APN 11 87614234 missense probably damaging 1.00
IGL03196:Mtmr4 APN 11 87600783 missense possibly damaging 0.92
IGL03214:Mtmr4 APN 11 87597693 missense probably damaging 1.00
IGL03258:Mtmr4 APN 11 87612003 missense possibly damaging 0.63
Hippie UTSW 11 87613483 missense probably damaging 1.00
incharge UTSW 11 87611042 nonsense probably null
PIT4802001:Mtmr4 UTSW 11 87611127 missense probably benign
R0009:Mtmr4 UTSW 11 87611508 missense probably benign 0.02
R0564:Mtmr4 UTSW 11 87598888 missense probably damaging 1.00
R0637:Mtmr4 UTSW 11 87611064 missense probably benign 0.30
R0780:Mtmr4 UTSW 11 87611440 missense probably benign 0.03
R1490:Mtmr4 UTSW 11 87612225 missense probably damaging 1.00
R1550:Mtmr4 UTSW 11 87613516 missense probably damaging 1.00
R1777:Mtmr4 UTSW 11 87602830 missense probably damaging 1.00
R1828:Mtmr4 UTSW 11 87612117 missense probably benign 0.26
R2040:Mtmr4 UTSW 11 87605090 missense probably damaging 1.00
R2088:Mtmr4 UTSW 11 87610967 missense probably damaging 0.98
R2497:Mtmr4 UTSW 11 87600823 missense probably damaging 1.00
R2993:Mtmr4 UTSW 11 87604997 missense probably damaging 1.00
R3857:Mtmr4 UTSW 11 87597262 missense probably damaging 0.98
R3858:Mtmr4 UTSW 11 87597262 missense probably damaging 0.98
R4614:Mtmr4 UTSW 11 87610935 missense probably damaging 0.99
R4615:Mtmr4 UTSW 11 87610935 missense probably damaging 0.99
R4616:Mtmr4 UTSW 11 87610935 missense probably damaging 0.99
R4816:Mtmr4 UTSW 11 87604097 missense probably damaging 1.00
R5454:Mtmr4 UTSW 11 87611042 nonsense probably null
R5502:Mtmr4 UTSW 11 87614078 missense probably damaging 1.00
R5566:Mtmr4 UTSW 11 87604530 missense probably damaging 1.00
R5833:Mtmr4 UTSW 11 87605049 nonsense probably null
R5907:Mtmr4 UTSW 11 87612050 missense probably damaging 0.99
R5980:Mtmr4 UTSW 11 87604151 missense probably damaging 1.00
R6077:Mtmr4 UTSW 11 87611019 missense probably damaging 1.00
R6434:Mtmr4 UTSW 11 87613483 missense probably damaging 1.00
R6521:Mtmr4 UTSW 11 87613527 missense possibly damaging 0.86
R7141:Mtmr4 UTSW 11 87600613 missense probably damaging 1.00
R7182:Mtmr4 UTSW 11 87604605 critical splice donor site probably null
R7290:Mtmr4 UTSW 11 87611237 missense probably benign
R7350:Mtmr4 UTSW 11 87600650 missense probably damaging 0.98
R7392:Mtmr4 UTSW 11 87604557 missense probably damaging 1.00
R7447:Mtmr4 UTSW 11 87611901 missense probably damaging 1.00
R7530:Mtmr4 UTSW 11 87611876 missense probably damaging 1.00
R7660:Mtmr4 UTSW 11 87604580 missense probably damaging 0.99
R7713:Mtmr4 UTSW 11 87597724 missense probably damaging 1.00
R7823:Mtmr4 UTSW 11 87612189 missense probably damaging 1.00
R8010:Mtmr4 UTSW 11 87598864 missense probably damaging 1.00
X0062:Mtmr4 UTSW 11 87611825 missense probably damaging 0.99
Z1177:Mtmr4 UTSW 11 87611880 missense probably benign 0.41
Posted On2012-04-20