Incidental Mutation 'R9673:Mtmr4'
ID 728172
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R9673 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 87482988-87507128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87503138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1064 (D1064G)
Ref Sequence ENSEMBL: ENSMUSP00000099468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000093956] [ENSMUST00000103179] [ENSMUST00000119628]
AlphaFold Q91XS1
Predicted Effect probably damaging
Transcript: ENSMUST00000092802
AA Change: D1007G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: D1007G

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: ENSMUST00000093956
SMART Domains Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345

DomainStartEndE-ValueType
HSF 11 153 2.35e-9 SMART
Blast:HSF 163 423 1e-149 BLAST
low complexity region 442 457 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103179
AA Change: D1064G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: D1064G

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 damaging
Transcript: ENSMUST00000119628
AA Change: D1064G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: D1064G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,399 (GRCm39) K318E probably benign Het
Ap5z1 T C 5: 142,463,113 (GRCm39) F766L probably benign Het
Atrnl1 A G 19: 57,599,786 (GRCm39) M1V probably null Het
Atxn1 T C 13: 45,710,622 (GRCm39) E770G probably benign Het
Brwd1 T G 16: 95,813,096 (GRCm39) I1471L probably benign Het
Bud23 T C 5: 135,082,571 (GRCm39) E66G probably benign Het
Cdh8 T A 8: 99,757,367 (GRCm39) I744L possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep95 C A 11: 106,703,322 (GRCm39) H467Q probably benign Het
Chd1 A G 17: 15,989,023 (GRCm39) Y1592C probably benign Het
Chkb C G 15: 89,313,628 (GRCm39) G59A probably damaging Het
Copa A G 1: 171,945,648 (GRCm39) S915G probably benign Het
Creb3 G T 4: 43,563,191 (GRCm39) V97F probably damaging Het
Csmd2 T A 4: 128,308,062 (GRCm39) H1273Q Het
Cxcr1 T C 1: 74,231,074 (GRCm39) N316S probably benign Het
Cyct A T 2: 76,184,523 (GRCm39) I76N probably damaging Het
Dmxl2 G T 9: 54,294,840 (GRCm39) R2412S probably damaging Het
Dnah11 A G 12: 117,982,513 (GRCm39) M2552T possibly damaging Het
Dnph1 G A 17: 46,809,901 (GRCm39) E148K possibly damaging Het
Ecpas T C 4: 58,822,060 (GRCm39) N1169S probably benign Het
Esp16 T A 17: 39,848,731 (GRCm39) Y8* probably null Het
Fam186a T C 15: 99,841,024 (GRCm39) D1740G possibly damaging Het
Fam76a C A 4: 132,628,557 (GRCm39) K300N probably damaging Het
Fcgbpl1 A G 7: 27,856,044 (GRCm39) T1944A probably benign Het
Frrs1l A C 4: 56,990,191 (GRCm39) D27E Het
G6pc1 T C 11: 101,267,380 (GRCm39) S277P probably damaging Het
Gabrg3 T A 7: 56,973,422 (GRCm39) I82F probably damaging Het
Gm3604 G T 13: 62,517,969 (GRCm39) Q130K probably benign Het
Hhip T A 8: 80,719,108 (GRCm39) D473V probably damaging Het
Ifi209 T C 1: 173,470,332 (GRCm39) S307P probably damaging Het
Ino80c C T 18: 24,254,856 (GRCm39) M1I probably null Het
Jag2 G T 12: 112,875,416 (GRCm39) C872* probably null Het
Kcnma1 A C 14: 23,558,123 (GRCm39) H474Q probably benign Het
Krr1 G A 10: 111,818,963 (GRCm39) probably null Het
Lats1 T G 10: 7,588,387 (GRCm39) D1001E probably benign Het
Lilrb4b T C 10: 51,357,753 (GRCm39) L149P probably benign Het
Lrrk2 T A 15: 91,649,884 (GRCm39) S1674T probably damaging Het
Magi2 A G 5: 20,670,582 (GRCm39) I309V possibly damaging Het
Neb C T 2: 52,133,853 (GRCm39) probably null Het
Nhsl1 T A 10: 18,402,665 (GRCm39) V1297E possibly damaging Het
Nlrp3 T A 11: 59,440,148 (GRCm39) V575D probably damaging Het
Nptx2 T C 5: 144,492,159 (GRCm39) I312T possibly damaging Het
Osm A G 11: 4,189,926 (GRCm39) T237A probably benign Het
Pcdha12 T C 18: 37,155,234 (GRCm39) V651A possibly damaging Het
Pclo A G 5: 14,908,758 (GRCm39) probably null Het
Pdlim3 C T 8: 46,368,195 (GRCm39) S183L possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pgm2 T A 5: 64,273,671 (GRCm39) M552K probably damaging Het
Pkhd1l1 T C 15: 44,386,901 (GRCm39) L1258S probably benign Het
Proser3 T G 7: 30,248,530 (GRCm39) T55P probably damaging Het
Ranbp2 C A 10: 58,300,963 (GRCm39) P611Q probably damaging Het
Rangap1 T C 15: 81,590,637 (GRCm39) D485G probably benign Het
Rp1 G A 1: 4,337,792 (GRCm39) T421I unknown Het
Ryr3 G A 2: 112,486,883 (GRCm39) L3862F possibly damaging Het
Sbf1 C T 15: 89,179,675 (GRCm39) G1337R possibly damaging Het
Setd2 A G 9: 110,378,138 (GRCm39) E651G probably damaging Het
Shmt1 A G 11: 60,692,769 (GRCm39) W105R probably damaging Het
Skor2 C T 18: 76,946,376 (GRCm39) H33Y unknown Het
Slc22a29 T C 19: 8,140,104 (GRCm39) I434V probably benign Het
Sord C T 2: 122,090,712 (GRCm39) T221I probably benign Het
Speer1g T A 5: 11,178,990 (GRCm39) N55K probably benign Het
Tbcd T C 11: 121,464,647 (GRCm39) Y561H probably damaging Het
Tcaf1 G A 6: 42,663,808 (GRCm39) S24F probably benign Het
Tenm4 A T 7: 96,517,196 (GRCm39) D1429V probably damaging Het
Tesk1 A G 4: 43,444,574 (GRCm39) Y126C probably damaging Het
Tmem176a G A 6: 48,820,952 (GRCm39) V141I probably benign Het
Tmem204 A T 17: 25,299,243 (GRCm39) V92D probably damaging Het
Ttn T A 2: 76,572,605 (GRCm39) D26096V probably damaging Het
Vmn1r70 T A 7: 10,368,364 (GRCm39) L284Q probably damaging Het
Vmn2r77 T C 7: 86,450,171 (GRCm39) V139A possibly damaging Het
Wdpcp A G 11: 21,671,285 (GRCm39) R509G possibly damaging Het
Wee1 C T 7: 109,725,210 (GRCm39) T284I probably damaging Het
Wfs1 A G 5: 37,125,113 (GRCm39) S593P probably damaging Het
Zbtb11 A G 16: 55,827,336 (GRCm39) H934R probably damaging Het
Zfp277 A T 12: 40,370,611 (GRCm39) V446E probably benign Het
Zfp874a C A 13: 67,591,156 (GRCm39) R176L probably benign Het
Znrf2 A T 6: 54,840,978 (GRCm39) N184I probably damaging Het
Zp2 T A 7: 119,733,238 (GRCm39) T568S probably 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
R4616: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
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'- ATGATGATGGACTCCCCTTTC -3'
(R):5'- AAGCAATGTCACTGGAGCAC -3'

Sequencing Primer
(F):5'- GACTCCCCTTTCCCACGGATG -3'
(R):5'- GCCTCCATGCTTCTAAAAATGC -3'
Posted On 2022-10-06