Incidental Mutation 'R4616:Mtmr4'
ID 386332
Institutional Source Beutler Lab
Gene Symbol Mtmr4
Ensembl Gene ENSMUSG00000018401
Gene Name myotubularin related protein 4
Synonyms ZFYVE11, FYVE-DSP2, ESTM44, FYVE zinc finger phosphatase
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 87482988-87507128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87501761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 548 (L548S)
Ref Sequence ENSEMBL: ENSMUSP00000090478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000119628]
AlphaFold Q91XS1
Predicted Effect probably damaging
Transcript: ENSMUST00000092802
AA Change: L548S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: L548S

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 possibly damaging
Transcript: ENSMUST00000103179
AA Change: L605S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: L605S

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 possibly damaging
Transcript: ENSMUST00000119628
AA Change: L605S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: L605S

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
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging Het
Other mutations in Mtmr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Mtmr4 APN 11 87,502,750 (GRCm39) missense probably benign 0.29
IGL01134:Mtmr4 APN 11 87,494,893 (GRCm39) missense probably damaging 1.00
IGL01317:Mtmr4 APN 11 87,493,230 (GRCm39) unclassified probably benign
IGL01544:Mtmr4 APN 11 87,488,437 (GRCm39) splice site probably benign
IGL01574:Mtmr4 APN 11 87,491,473 (GRCm39) missense probably benign 0.01
IGL01807:Mtmr4 APN 11 87,494,976 (GRCm39) missense possibly damaging 0.55
IGL02059:Mtmr4 APN 11 87,491,950 (GRCm39) missense possibly damaging 0.66
IGL03049:Mtmr4 APN 11 87,505,060 (GRCm39) missense probably damaging 1.00
IGL03196:Mtmr4 APN 11 87,491,609 (GRCm39) missense possibly damaging 0.92
IGL03214:Mtmr4 APN 11 87,488,519 (GRCm39) missense probably damaging 1.00
IGL03258:Mtmr4 APN 11 87,502,829 (GRCm39) missense possibly damaging 0.63
Hippie UTSW 11 87,504,309 (GRCm39) missense probably damaging 1.00
incharge UTSW 11 87,501,868 (GRCm39) nonsense probably null
PIT4802001:Mtmr4 UTSW 11 87,501,953 (GRCm39) missense probably benign
R0009:Mtmr4 UTSW 11 87,502,334 (GRCm39) missense probably benign 0.02
R0564:Mtmr4 UTSW 11 87,489,714 (GRCm39) missense probably damaging 1.00
R0637:Mtmr4 UTSW 11 87,501,890 (GRCm39) missense probably benign 0.30
R0780:Mtmr4 UTSW 11 87,502,266 (GRCm39) missense probably benign 0.03
R1490:Mtmr4 UTSW 11 87,503,051 (GRCm39) missense probably damaging 1.00
R1550:Mtmr4 UTSW 11 87,504,342 (GRCm39) missense probably damaging 1.00
R1777:Mtmr4 UTSW 11 87,493,656 (GRCm39) missense probably damaging 1.00
R1828:Mtmr4 UTSW 11 87,502,943 (GRCm39) missense probably benign 0.26
R2040:Mtmr4 UTSW 11 87,495,916 (GRCm39) missense probably damaging 1.00
R2088:Mtmr4 UTSW 11 87,501,793 (GRCm39) missense probably damaging 0.98
R2497:Mtmr4 UTSW 11 87,491,649 (GRCm39) missense probably damaging 1.00
R2993:Mtmr4 UTSW 11 87,495,823 (GRCm39) missense probably damaging 1.00
R3857:Mtmr4 UTSW 11 87,488,088 (GRCm39) missense probably damaging 0.98
R3858:Mtmr4 UTSW 11 87,488,088 (GRCm39) missense probably damaging 0.98
R4614:Mtmr4 UTSW 11 87,501,761 (GRCm39) missense probably damaging 0.99
R4615:Mtmr4 UTSW 11 87,501,761 (GRCm39) missense probably damaging 0.99
R4816:Mtmr4 UTSW 11 87,494,923 (GRCm39) missense probably damaging 1.00
R5454:Mtmr4 UTSW 11 87,501,868 (GRCm39) nonsense probably null
R5502:Mtmr4 UTSW 11 87,504,904 (GRCm39) missense probably damaging 1.00
R5566:Mtmr4 UTSW 11 87,495,356 (GRCm39) missense probably damaging 1.00
R5833:Mtmr4 UTSW 11 87,495,875 (GRCm39) nonsense probably null
R5907:Mtmr4 UTSW 11 87,502,876 (GRCm39) missense probably damaging 0.99
R5980:Mtmr4 UTSW 11 87,494,977 (GRCm39) missense probably damaging 1.00
R6077:Mtmr4 UTSW 11 87,501,845 (GRCm39) missense probably damaging 1.00
R6434:Mtmr4 UTSW 11 87,504,309 (GRCm39) missense probably damaging 1.00
R6521:Mtmr4 UTSW 11 87,504,353 (GRCm39) missense possibly damaging 0.86
R7141:Mtmr4 UTSW 11 87,491,439 (GRCm39) missense probably damaging 1.00
R7182:Mtmr4 UTSW 11 87,495,431 (GRCm39) critical splice donor site probably null
R7290:Mtmr4 UTSW 11 87,502,063 (GRCm39) missense probably benign
R7350:Mtmr4 UTSW 11 87,491,476 (GRCm39) missense probably damaging 0.98
R7392:Mtmr4 UTSW 11 87,495,383 (GRCm39) missense probably damaging 1.00
R7447:Mtmr4 UTSW 11 87,502,727 (GRCm39) missense probably damaging 1.00
R7530:Mtmr4 UTSW 11 87,502,702 (GRCm39) missense probably damaging 1.00
R7660:Mtmr4 UTSW 11 87,495,406 (GRCm39) missense probably damaging 0.99
R7713:Mtmr4 UTSW 11 87,488,550 (GRCm39) missense probably damaging 1.00
R7823:Mtmr4 UTSW 11 87,503,015 (GRCm39) missense probably damaging 1.00
R7944:Mtmr4 UTSW 11 87,495,254 (GRCm39) missense probably damaging 1.00
R7945:Mtmr4 UTSW 11 87,495,254 (GRCm39) missense probably damaging 1.00
R8010:Mtmr4 UTSW 11 87,489,690 (GRCm39) missense probably damaging 1.00
R8116:Mtmr4 UTSW 11 87,502,756 (GRCm39) nonsense probably null
R8544:Mtmr4 UTSW 11 87,502,735 (GRCm39) missense possibly damaging 0.86
R8559:Mtmr4 UTSW 11 87,494,950 (GRCm39) missense probably damaging 1.00
R8971:Mtmr4 UTSW 11 87,493,626 (GRCm39) missense probably benign 0.13
R9562:Mtmr4 UTSW 11 87,493,241 (GRCm39) missense probably damaging 1.00
R9673:Mtmr4 UTSW 11 87,504,916 (GRCm39) missense probably damaging 1.00
R9673:Mtmr4 UTSW 11 87,503,138 (GRCm39) missense probably damaging 1.00
R9797:Mtmr4 UTSW 11 87,494,962 (GRCm39) missense probably damaging 1.00
X0062:Mtmr4 UTSW 11 87,502,651 (GRCm39) missense probably damaging 0.99
Z1177:Mtmr4 UTSW 11 87,502,706 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GCTAAGCATTCTGGAAGATGAGTATG -3'
(R):5'- AGGAGGAAGGCCCATTTCTC -3'

Sequencing Primer
(F):5'- GTCTTATCCTTTGTGCAGAGTAGAC -3'
(R):5'- TGGGCTTCCAACTCCAGAGTC -3'
Posted On 2016-05-11