Incidental Mutation 'R0238:Espnl'
ID 59085
Institutional Source Beutler Lab
Gene Symbol Espnl
Ensembl Gene ENSMUSG00000049515
Gene Name espin-like
Synonyms LOC227357
MMRRC Submission 038476-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0238 (G1)
Quality Score 179
Status Validated
Chromosome 1
Chromosomal Location 91249797-91276028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91250009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000135828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027532] [ENSMUST00000088904] [ENSMUST00000176156]
AlphaFold Q3UYR4
Predicted Effect probably benign
Transcript: ENSMUST00000027532
SMART Domains Protein: ENSMUSP00000027532
Gene: ENSMUSG00000026307

DomainStartEndE-ValueType
Pfam:Aminotran_5 20 417 1.7e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000088904
AA Change: V52A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: V52A

DomainStartEndE-ValueType
Blast:ANK 1 33 4e-7 BLAST
ANK 35 64 5.21e1 SMART
ANK 69 102 2.88e2 SMART
ANK 103 132 3.85e-2 SMART
ANK 136 166 7.08e-1 SMART
ANK 170 200 1.02e-1 SMART
ANK 204 232 3.04e0 SMART
ANK 238 267 5.01e-1 SMART
ANK 270 299 1.96e-3 SMART
ANK 303 332 3.21e1 SMART
low complexity region 336 345 N/A INTRINSIC
coiled coil region 509 538 N/A INTRINSIC
low complexity region 820 833 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171768
Predicted Effect probably damaging
Transcript: ENSMUST00000176156
AA Change: V52A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: V52A

DomainStartEndE-ValueType
Blast:ANK 1 33 5e-7 BLAST
ANK 35 64 5.21e1 SMART
ANK 69 102 2.88e2 SMART
ANK 103 132 3.85e-2 SMART
ANK 136 166 7.08e-1 SMART
ANK 170 200 1.02e-1 SMART
ANK 204 232 3.04e0 SMART
ANK 238 267 5.01e-1 SMART
low complexity region 292 301 N/A INTRINSIC
coiled coil region 465 494 N/A INTRINSIC
low complexity region 776 789 N/A INTRINSIC
Meta Mutation Damage Score 0.5548 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 98% (105/107)
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,392,893 (GRCm39) V94G probably benign Het
Acp5 A T 9: 22,041,218 (GRCm39) S70T possibly damaging Het
Adcy1 C G 11: 7,089,162 (GRCm39) N525K possibly damaging Het
Adra1d C A 2: 131,388,134 (GRCm39) V474F probably benign Het
Aknad1 A G 3: 108,688,555 (GRCm39) M628V probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Ccdc158 A C 5: 92,809,977 (GRCm39) M177R probably benign Het
Ccdc191 A T 16: 43,767,859 (GRCm39) R678* probably null Het
Cdkn2d C A 9: 21,202,288 (GRCm39) probably benign Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap44 T A 16: 44,242,681 (GRCm39) M695K probably benign Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chd9 T C 8: 91,659,456 (GRCm39) S139P probably damaging Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
Cnga1 A G 5: 72,762,374 (GRCm39) I380T probably damaging Het
Col4a1 C T 8: 11,268,780 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,633 (GRCm39) E53D probably damaging Het
Cul2 A G 18: 3,414,115 (GRCm39) probably benign Het
Dclk3 A T 9: 111,311,696 (GRCm39) N646I probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Fam163b T C 2: 27,002,646 (GRCm39) N117S probably damaging Het
Fam89a A G 8: 125,467,971 (GRCm39) Y114H probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gnai1 A G 5: 18,478,548 (GRCm39) S206P probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Haus3 G A 5: 34,323,600 (GRCm39) P337S possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hpn G T 7: 30,798,815 (GRCm39) probably benign Het
Hspa9 A T 18: 35,079,699 (GRCm39) Y243* probably null Het
Htr3a T C 9: 48,817,686 (GRCm39) T96A probably benign Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Il4ra T C 7: 125,174,371 (GRCm39) probably benign Het
Ipo9 A G 1: 135,332,074 (GRCm39) probably benign Het
Irag2 G A 6: 145,117,704 (GRCm39) probably benign Het
Jph3 A G 8: 122,480,459 (GRCm39) Q379R possibly damaging Het
Kcnb1 A G 2: 166,946,889 (GRCm39) V653A probably benign Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Map3k21 A G 8: 126,671,709 (GRCm39) D999G possibly damaging Het
Marf1 T C 16: 13,969,147 (GRCm39) I109V probably benign Het
Mcam T G 9: 44,051,502 (GRCm39) probably null Het
Med18 T C 4: 132,187,337 (GRCm39) H99R probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Micu2 G A 14: 58,154,835 (GRCm39) probably benign Het
Mpl A G 4: 118,314,060 (GRCm39) probably benign Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo1e A T 9: 70,249,408 (GRCm39) I503F possibly damaging Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Myorg A T 4: 41,498,912 (GRCm39) N239K probably benign Het
Nbn T C 4: 15,986,672 (GRCm39) probably benign Het
Ndufa4 C T 6: 11,906,023 (GRCm39) V10I probably benign Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nlrp9c A G 7: 26,077,437 (GRCm39) S727P possibly damaging Het
Nmbr C T 10: 14,646,139 (GRCm39) Q338* probably null Het
Nt5e A G 9: 88,249,385 (GRCm39) S440G possibly damaging Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pa2g4 T C 10: 128,399,511 (GRCm39) K51R probably benign Het
Pah C T 10: 87,403,143 (GRCm39) P173S possibly damaging Het
Pcdhb12 A G 18: 37,569,780 (GRCm39) I309V probably benign Het
Pck1 T G 2: 172,998,861 (GRCm39) I373S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Pzp C T 6: 128,466,119 (GRCm39) probably benign Het
Rab39 G A 9: 53,617,330 (GRCm39) T29I probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Rars2 T C 4: 34,645,838 (GRCm39) Y252H probably damaging Het
Rars2 A C 4: 34,656,030 (GRCm39) Q421P probably benign Het
Rasa2 A T 9: 96,450,460 (GRCm39) D479E probably damaging Het
Rbl2 A T 8: 91,833,135 (GRCm39) T689S probably damaging Het
Rims4 C T 2: 163,705,945 (GRCm39) V230M probably benign Het
Scgb1b27 G A 7: 33,721,377 (GRCm39) probably benign Het
Sec31b G A 19: 44,513,908 (GRCm39) probably benign Het
Six3 G A 17: 85,928,818 (GRCm39) G51R probably damaging Het
Skp2 A C 15: 9,127,971 (GRCm39) probably null Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc4a2 A T 5: 24,641,272 (GRCm39) probably null Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Susd5 A G 9: 113,925,977 (GRCm39) *620W probably null Het
Timm21 T C 18: 84,965,791 (GRCm39) N239S probably damaging Het
Tmem131 T C 1: 36,867,131 (GRCm39) probably benign Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tnrc6b A G 15: 80,772,065 (GRCm39) D1118G probably damaging Het
Traf2 G C 2: 25,427,138 (GRCm39) A71G possibly damaging Het
Trim54 A G 5: 31,291,463 (GRCm39) M195V probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trp73 AGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTG 4: 154,146,981 (GRCm39) probably benign Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp329 G T 7: 12,544,756 (GRCm39) T256K probably damaging Het
Zfp729b A G 13: 67,740,022 (GRCm39) Y748H probably damaging Het
Zfp777 T C 6: 48,001,903 (GRCm39) E773G probably damaging Het
Zfp866 T C 8: 70,219,365 (GRCm39) Y53C probably damaging Het
Other mutations in Espnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Espnl APN 1 91,268,333 (GRCm39) nonsense probably null
IGL01726:Espnl APN 1 91,272,626 (GRCm39) missense probably benign
IGL02402:Espnl APN 1 91,272,535 (GRCm39) missense probably benign 0.13
IGL02472:Espnl APN 1 91,268,256 (GRCm39) missense probably benign 0.02
IGL02986:Espnl APN 1 91,272,572 (GRCm39) missense probably benign 0.01
IGL03037:Espnl APN 1 91,269,643 (GRCm39) missense probably benign 0.01
IGL03073:Espnl APN 1 91,272,278 (GRCm39) missense probably damaging 0.99
R0111:Espnl UTSW 1 91,272,464 (GRCm39) missense probably benign 0.29
R0197:Espnl UTSW 1 91,272,211 (GRCm39) missense probably damaging 1.00
R0239:Espnl UTSW 1 91,250,009 (GRCm39) missense probably damaging 0.97
R0239:Espnl UTSW 1 91,250,009 (GRCm39) missense probably damaging 0.97
R0665:Espnl UTSW 1 91,262,409 (GRCm39) splice site probably null
R1772:Espnl UTSW 1 91,272,325 (GRCm39) missense possibly damaging 0.61
R3804:Espnl UTSW 1 91,249,943 (GRCm39) missense probably benign 0.00
R4352:Espnl UTSW 1 91,262,443 (GRCm39) missense probably damaging 1.00
R4566:Espnl UTSW 1 91,272,301 (GRCm39) missense possibly damaging 0.46
R4790:Espnl UTSW 1 91,272,146 (GRCm39) missense probably damaging 1.00
R5234:Espnl UTSW 1 91,272,515 (GRCm39) missense probably benign 0.02
R6430:Espnl UTSW 1 91,249,970 (GRCm39) missense possibly damaging 0.75
R6652:Espnl UTSW 1 91,272,421 (GRCm39) missense probably benign 0.13
R6785:Espnl UTSW 1 91,249,943 (GRCm39) missense probably benign 0.00
R6800:Espnl UTSW 1 91,270,351 (GRCm39) missense probably damaging 0.98
R7082:Espnl UTSW 1 91,262,521 (GRCm39) missense probably benign 0.00
R7311:Espnl UTSW 1 91,251,290 (GRCm39) missense probably damaging 0.98
R7376:Espnl UTSW 1 91,250,036 (GRCm39) missense probably damaging 1.00
R7880:Espnl UTSW 1 91,272,488 (GRCm39) missense possibly damaging 0.81
R8154:Espnl UTSW 1 91,252,921 (GRCm39) missense possibly damaging 0.87
R8739:Espnl UTSW 1 91,272,317 (GRCm39) missense probably damaging 0.96
R9266:Espnl UTSW 1 91,272,771 (GRCm39) missense probably benign 0.40
R9354:Espnl UTSW 1 91,272,323 (GRCm39) missense probably benign 0.00
R9428:Espnl UTSW 1 91,273,595 (GRCm39) missense probably damaging 1.00
R9798:Espnl UTSW 1 91,251,286 (GRCm39) missense probably damaging 1.00
Z1177:Espnl UTSW 1 91,251,277 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTGCCAGCCTGACTTGCATACC -3'
(R):5'- AGAGCCGTCCTGTTCTAGCTTACC -3'

Sequencing Primer
(F):5'- GGAGCTGCTTATCAGGTAACC -3'
(R):5'- TGCATCGTGCACTGGTG -3'
Posted On 2013-07-11