Incidental Mutation 'R5279:Gon4l'
ID 404092
Institutional Source Beutler Lab
Gene Symbol Gon4l
Ensembl Gene ENSMUSG00000054199
Gene Name gon-4 like
Synonyms 1500041I23Rik, 2610100B20Rik
MMRRC Submission 042839-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R5279 (G1)
Quality Score 120
Status Not validated
Chromosome 3
Chromosomal Location 88742531-88817406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88794944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 716 (I716V)
Ref Sequence ENSEMBL: ENSMUSP00000103122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107498]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081695
AA Change: I716V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: I716V

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 240 256 N/A INTRINSIC
low complexity region 348 377 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 683 696 N/A INTRINSIC
Blast:SANT 813 865 1e-23 BLAST
low complexity region 961 975 N/A INTRINSIC
low complexity region 1311 1329 N/A INTRINSIC
low complexity region 1418 1434 N/A INTRINSIC
low complexity region 1452 1497 N/A INTRINSIC
low complexity region 1507 1541 N/A INTRINSIC
Pfam:PAH 1652 1700 8.8e-9 PFAM
low complexity region 1800 1811 N/A INTRINSIC
coiled coil region 1919 1943 N/A INTRINSIC
low complexity region 2085 2094 N/A INTRINSIC
SANT 2153 2204 2.2e-1 SMART
low complexity region 2207 2222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090942
AA Change: I717V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: I717V

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 241 257 N/A INTRINSIC
low complexity region 349 378 N/A INTRINSIC
low complexity region 433 440 N/A INTRINSIC
low complexity region 528 543 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Blast:SANT 814 866 2e-23 BLAST
low complexity region 962 976 N/A INTRINSIC
low complexity region 1312 1330 N/A INTRINSIC
low complexity region 1419 1435 N/A INTRINSIC
low complexity region 1453 1498 N/A INTRINSIC
low complexity region 1508 1542 N/A INTRINSIC
Pfam:PAH 1654 1700 2.1e-8 PFAM
low complexity region 1801 1812 N/A INTRINSIC
coiled coil region 1920 1944 N/A INTRINSIC
low complexity region 2086 2095 N/A INTRINSIC
SANT 2154 2205 2.2e-1 SMART
low complexity region 2208 2223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107498
AA Change: I716V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: I716V

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 240 256 N/A INTRINSIC
low complexity region 348 377 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 683 696 N/A INTRINSIC
Blast:SANT 813 865 1e-23 BLAST
low complexity region 961 975 N/A INTRINSIC
low complexity region 1311 1329 N/A INTRINSIC
low complexity region 1418 1434 N/A INTRINSIC
low complexity region 1452 1497 N/A INTRINSIC
low complexity region 1507 1541 N/A INTRINSIC
Pfam:PAH 1652 1700 8.8e-9 PFAM
low complexity region 1800 1811 N/A INTRINSIC
coiled coil region 1919 1943 N/A INTRINSIC
low complexity region 2085 2094 N/A INTRINSIC
SANT 2153 2204 2.2e-1 SMART
low complexity region 2207 2222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198251
Predicted Effect unknown
Transcript: ENSMUST00000212694
AA Change: I416V
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,508,388 (GRCm39) G1049V probably damaging Het
Afdn G A 17: 14,109,214 (GRCm39) R1579H probably damaging Het
Ankrd28 T A 14: 31,456,963 (GRCm39) N386Y probably damaging Het
Atf7ip T A 6: 136,580,377 (GRCm39) Y1100* probably null Het
Atp9b T A 18: 80,956,073 (GRCm39) E3V probably damaging Het
AW554918 T G 18: 25,308,488 (GRCm39) D60E possibly damaging Het
Baz2b G T 2: 59,762,496 (GRCm39) Q927K probably damaging Het
Birc6 A G 17: 74,957,042 (GRCm39) R3659G probably damaging Het
C8a T G 4: 104,703,185 (GRCm39) N291H probably damaging Het
Calcoco1 G A 15: 102,619,420 (GRCm39) L390F probably damaging Het
Carmil3 A G 14: 55,739,028 (GRCm39) D894G probably damaging Het
Cdc20 A G 4: 118,290,711 (GRCm39) Y430H probably damaging Het
Cdc6 A T 11: 98,803,088 (GRCm39) I316F probably damaging Het
Ceacam23 T A 7: 17,607,214 (GRCm39) noncoding transcript Het
Cenpu T A 8: 47,031,945 (GRCm39) probably null Het
Csmd2 T A 4: 128,350,707 (GRCm39) V1592D probably benign Het
Csmd3 G T 15: 48,655,340 (GRCm39) probably null Het
Dnah7c T C 1: 46,558,429 (GRCm39) F512L probably benign Het
Fam136a T A 6: 86,343,686 (GRCm39) L61Q probably damaging Het
Fpgs A C 2: 32,582,779 (GRCm39) probably benign Het
Fzd4 G A 7: 89,056,881 (GRCm39) M309I probably benign Het
Gad2 A G 2: 22,563,969 (GRCm39) T391A probably benign Het
Gm11563 A T 11: 99,549,539 (GRCm39) S72T unknown Het
Itga9 T C 9: 118,457,273 (GRCm39) V128A probably damaging Het
Kat6a CGCAGCAGCAGCAGCAGCA CGCAGCAGCAGCA 8: 23,429,664 (GRCm39) probably benign Het
Lrrc9 T A 12: 72,542,368 (GRCm39) D1063E possibly damaging Het
Lyst T A 13: 13,823,387 (GRCm39) L1453* probably null Het
Mcm3ap T C 10: 76,343,373 (GRCm39) V1755A probably damaging Het
Mrc1 T C 2: 14,314,869 (GRCm39) S985P probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Nr2c2ap G A 8: 70,584,653 (GRCm39) D42N probably damaging Het
Ntn1 A G 11: 68,276,538 (GRCm39) S137P probably benign Het
Pard3 T C 8: 128,186,867 (GRCm39) probably null Het
Pcdh15 T A 10: 74,430,015 (GRCm39) D1210E probably damaging Het
Pcdhga5 T C 18: 37,827,774 (GRCm39) L74P probably benign Het
Pcsk5 T C 19: 17,573,022 (GRCm39) probably null Het
Pdia3 T C 2: 121,244,484 (GRCm39) probably benign Het
Pikfyve A T 1: 65,235,858 (GRCm39) R177* probably null Het
Pklr A G 3: 89,050,566 (GRCm39) E409G probably damaging Het
Plod2 T C 9: 92,463,376 (GRCm39) Y154H probably damaging Het
Psmc3 T A 2: 90,884,667 (GRCm39) D6E probably benign Het
Ptpru T A 4: 131,547,334 (GRCm39) N205I possibly damaging Het
Rbm6 T C 9: 107,655,213 (GRCm39) E1006G probably benign Het
Rgl2 T C 17: 34,154,922 (GRCm39) V642A probably benign Het
Rnf8 T A 17: 29,845,680 (GRCm39) H104Q possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rpa1 T C 11: 75,204,170 (GRCm39) N269S probably damaging Het
Sdk2 A G 11: 113,757,857 (GRCm39) M519T probably benign Het
Snx30 A G 4: 59,885,070 (GRCm39) S237G probably benign Het
Spx A G 6: 142,359,766 (GRCm39) N36S probably damaging Het
Stard7 T C 2: 127,137,416 (GRCm39) Y289H probably damaging Het
Sugp2 T C 8: 70,709,757 (GRCm39) probably benign Het
Susd4 C T 1: 182,715,043 (GRCm39) T288I probably damaging Het
Tceanc2 T A 4: 107,034,826 (GRCm39) probably null Het
Tm4sf4 T G 3: 57,341,159 (GRCm39) V97G probably benign Het
Tmtc1 C T 6: 148,256,629 (GRCm39) probably benign Het
Trappc11 C T 8: 47,958,339 (GRCm39) probably benign Het
Triobp G T 15: 78,878,591 (GRCm39) V398F possibly damaging Het
Ttll9 T A 2: 152,804,464 (GRCm39) S2T possibly damaging Het
Ttn T C 2: 76,731,320 (GRCm39) probably benign Het
Tyw3 A G 3: 154,300,108 (GRCm39) C80R probably damaging Het
Usp24 T C 4: 106,242,621 (GRCm39) V1177A possibly damaging Het
Vmn1r65 A G 7: 6,011,754 (GRCm39) V160A probably damaging Het
Vmn2r104 T A 17: 20,262,146 (GRCm39) H328L probably benign Het
Vmn2r65 A C 7: 84,589,849 (GRCm39) I689S probably damaging Het
Wrn A G 8: 33,731,129 (GRCm39) Y1068H probably damaging Het
Xpo4 C A 14: 57,850,866 (GRCm39) S346I probably benign Het
Zc3h3 T A 15: 75,711,439 (GRCm39) T341S probably benign Het
Zxdc T C 6: 90,347,419 (GRCm39) M260T possibly damaging Het
Other mutations in Gon4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Gon4l APN 3 88,764,492 (GRCm39) missense probably damaging 1.00
IGL02002:Gon4l APN 3 88,802,643 (GRCm39) missense possibly damaging 0.46
IGL02065:Gon4l APN 3 88,764,517 (GRCm39) missense probably null 1.00
IGL02283:Gon4l APN 3 88,802,671 (GRCm39) missense probably damaging 0.99
IGL02669:Gon4l APN 3 88,802,806 (GRCm39) missense probably damaging 1.00
IGL03222:Gon4l APN 3 88,802,950 (GRCm39) missense possibly damaging 0.56
IGL03385:Gon4l APN 3 88,814,850 (GRCm39) missense probably benign 0.10
PIT4581001:Gon4l UTSW 3 88,802,821 (GRCm39) missense probably damaging 1.00
R0020:Gon4l UTSW 3 88,766,244 (GRCm39) missense probably damaging 1.00
R0115:Gon4l UTSW 3 88,802,989 (GRCm39) missense probably damaging 1.00
R0173:Gon4l UTSW 3 88,765,710 (GRCm39) missense probably damaging 1.00
R0270:Gon4l UTSW 3 88,765,707 (GRCm39) missense probably damaging 1.00
R0961:Gon4l UTSW 3 88,805,403 (GRCm39) splice site probably benign
R1017:Gon4l UTSW 3 88,765,803 (GRCm39) missense probably benign 0.15
R1163:Gon4l UTSW 3 88,799,842 (GRCm39) missense probably damaging 1.00
R1729:Gon4l UTSW 3 88,810,405 (GRCm39) missense probably damaging 1.00
R1764:Gon4l UTSW 3 88,799,906 (GRCm39) missense probably damaging 1.00
R1861:Gon4l UTSW 3 88,802,794 (GRCm39) missense probably damaging 1.00
R2141:Gon4l UTSW 3 88,794,902 (GRCm39) missense possibly damaging 0.66
R2347:Gon4l UTSW 3 88,770,824 (GRCm39) missense probably damaging 1.00
R2402:Gon4l UTSW 3 88,766,350 (GRCm39) missense probably damaging 1.00
R2842:Gon4l UTSW 3 88,802,794 (GRCm39) missense probably damaging 1.00
R4375:Gon4l UTSW 3 88,814,694 (GRCm39) missense probably benign 0.00
R4376:Gon4l UTSW 3 88,814,694 (GRCm39) missense probably benign 0.00
R4377:Gon4l UTSW 3 88,814,694 (GRCm39) missense probably benign 0.00
R4569:Gon4l UTSW 3 88,817,397 (GRCm39) intron probably benign
R4650:Gon4l UTSW 3 88,770,859 (GRCm39) missense possibly damaging 0.94
R4859:Gon4l UTSW 3 88,802,655 (GRCm39) missense probably benign 0.00
R4901:Gon4l UTSW 3 88,815,458 (GRCm39) missense possibly damaging 0.50
R4998:Gon4l UTSW 3 88,807,305 (GRCm39) missense probably damaging 1.00
R5059:Gon4l UTSW 3 88,807,319 (GRCm39) missense probably benign 0.00
R5217:Gon4l UTSW 3 88,794,882 (GRCm39) missense probably damaging 1.00
R5269:Gon4l UTSW 3 88,802,835 (GRCm39) missense probably benign
R5283:Gon4l UTSW 3 88,794,897 (GRCm39) missense probably damaging 1.00
R5386:Gon4l UTSW 3 88,765,803 (GRCm39) missense probably benign 0.15
R5433:Gon4l UTSW 3 88,803,532 (GRCm39) missense possibly damaging 0.93
R5583:Gon4l UTSW 3 88,807,278 (GRCm39) missense probably damaging 1.00
R5695:Gon4l UTSW 3 88,803,523 (GRCm39) frame shift probably null
R5921:Gon4l UTSW 3 88,817,254 (GRCm39) intron probably benign
R6003:Gon4l UTSW 3 88,803,400 (GRCm39) missense probably damaging 0.99
R6063:Gon4l UTSW 3 88,807,306 (GRCm39) missense probably damaging 1.00
R6217:Gon4l UTSW 3 88,799,968 (GRCm39) missense possibly damaging 0.62
R6273:Gon4l UTSW 3 88,763,156 (GRCm39) missense probably damaging 1.00
R6280:Gon4l UTSW 3 88,798,195 (GRCm39) missense probably damaging 1.00
R6790:Gon4l UTSW 3 88,766,305 (GRCm39) missense probably damaging 1.00
R6829:Gon4l UTSW 3 88,787,413 (GRCm39) missense possibly damaging 0.96
R6891:Gon4l UTSW 3 88,766,173 (GRCm39) splice site probably null
R7128:Gon4l UTSW 3 88,802,999 (GRCm39) missense possibly damaging 0.94
R7315:Gon4l UTSW 3 88,802,486 (GRCm39) missense probably benign 0.00
R7355:Gon4l UTSW 3 88,770,827 (GRCm39) missense probably damaging 1.00
R7426:Gon4l UTSW 3 88,814,829 (GRCm39) missense probably benign
R7635:Gon4l UTSW 3 88,802,413 (GRCm39) missense probably benign 0.03
R7643:Gon4l UTSW 3 88,810,114 (GRCm39) missense probably damaging 1.00
R7715:Gon4l UTSW 3 88,815,313 (GRCm39) missense probably benign
R7773:Gon4l UTSW 3 88,803,102 (GRCm39) missense probably benign 0.00
R8090:Gon4l UTSW 3 88,799,931 (GRCm39) missense probably damaging 1.00
R8224:Gon4l UTSW 3 88,802,449 (GRCm39) missense probably damaging 1.00
R8260:Gon4l UTSW 3 88,799,937 (GRCm39) missense probably damaging 0.98
R8434:Gon4l UTSW 3 88,762,086 (GRCm39) missense probably damaging 1.00
R8732:Gon4l UTSW 3 88,807,291 (GRCm39) missense possibly damaging 0.95
R8812:Gon4l UTSW 3 88,802,314 (GRCm39) missense possibly damaging 0.86
R9132:Gon4l UTSW 3 88,815,484 (GRCm39) missense probably benign 0.29
R9161:Gon4l UTSW 3 88,808,955 (GRCm39) missense probably damaging 1.00
R9187:Gon4l UTSW 3 88,786,618 (GRCm39) missense probably benign 0.10
R9212:Gon4l UTSW 3 88,803,730 (GRCm39) missense probably benign 0.01
R9338:Gon4l UTSW 3 88,809,019 (GRCm39) missense probably benign 0.00
R9387:Gon4l UTSW 3 88,802,260 (GRCm39) missense probably benign 0.00
R9416:Gon4l UTSW 3 88,803,538 (GRCm39) missense probably benign 0.00
R9607:Gon4l UTSW 3 88,765,751 (GRCm39) missense probably damaging 0.99
Z1177:Gon4l UTSW 3 88,766,343 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-07-22