Incidental Mutation 'R9607:Gon4l'
ID 723915
Institutional Source Beutler Lab
Gene Symbol Gon4l
Ensembl Gene ENSMUSG00000054199
Gene Name gon-4 like
Synonyms 1500041I23Rik, 2610100B20Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R9607 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88742531-88817406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88765751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 391 (S391T)
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 damaging
Transcript: ENSMUST00000081695
AA Change: S391T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: S391T

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 damaging
Transcript: ENSMUST00000090942
AA Change: S392T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: S392T

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 damaging
Transcript: ENSMUST00000107498
AA Change: S391T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: S391T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,914,068 (GRCm39) probably null Het
Atp8a1 T C 5: 67,817,250 (GRCm39) Y927C Het
Bckdhb A G 9: 83,871,344 (GRCm39) I208V probably benign Het
Cacna1g T C 11: 94,356,714 (GRCm39) I141V probably benign Het
Celsr1 A G 15: 85,915,229 (GRCm39) S915P Het
Celsr3 G A 9: 108,717,701 (GRCm39) probably null Het
Cep295 A T 9: 15,234,009 (GRCm39) D2262E probably damaging Het
Chil3 T C 3: 106,067,685 (GRCm39) K160R probably null Het
Cmtr1 G T 17: 29,893,196 (GRCm39) A72S probably benign Het
Cpa5 T C 6: 30,626,338 (GRCm39) F233S probably damaging Het
Creb3l3 G A 10: 80,920,735 (GRCm39) R432W probably damaging Het
Csdc2 A G 15: 81,831,088 (GRCm39) D45G possibly damaging Het
Csmd3 G T 15: 47,618,811 (GRCm39) T1859K probably damaging Het
Cxxc1 T C 18: 74,353,479 (GRCm39) probably null Het
Dcc A G 18: 71,721,072 (GRCm39) S430P probably damaging Het
Dera T G 6: 137,833,732 (GRCm39) S270A unknown Het
Dnaaf1 A G 8: 120,309,350 (GRCm39) E146G possibly damaging Het
Dsg4 A T 18: 20,586,047 (GRCm39) T246S probably benign Het
Eif4g3 A G 4: 137,893,045 (GRCm39) E766G probably benign Het
Ep400 A C 5: 110,831,805 (GRCm39) C2146G unknown Het
Epas1 A T 17: 87,134,038 (GRCm39) T516S probably benign Het
Espn A G 4: 152,219,939 (GRCm39) S395P probably benign Het
Fam124b T A 1: 80,190,813 (GRCm39) Q190L probably damaging Het
Filip1 T A 9: 79,726,402 (GRCm39) D739V probably damaging Het
Flg2 A G 3: 93,108,719 (GRCm39) Y249C probably damaging Het
Hoxa5 G T 6: 52,181,196 (GRCm39) Y45* probably null Het
Ift172 A G 5: 31,410,913 (GRCm39) F1715S Het
Klhdc9 T A 1: 171,187,124 (GRCm39) H262L probably damaging Het
Krt16 C A 11: 100,138,453 (GRCm39) D232Y probably damaging Het
Lrrd1 A G 5: 3,901,561 (GRCm39) E622G probably damaging Het
Mars1 A T 10: 127,144,493 (GRCm39) C182* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Msrb2 C A 2: 19,399,130 (GRCm39) N164K probably damaging Het
Mtcl2 T G 2: 156,869,488 (GRCm39) E1049A probably damaging Het
Muc2 T A 7: 141,305,190 (GRCm39) C604S Het
Mup17 T C 4: 61,511,903 (GRCm39) I124V probably benign Het
Myo18b T C 5: 113,022,544 (GRCm39) M283V unknown Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Nepro T C 16: 44,551,832 (GRCm39) L230P probably damaging Het
Nes A G 3: 87,883,513 (GRCm39) N591D probably benign Het
Nfrkb T C 9: 31,326,066 (GRCm39) S1170P possibly damaging Het
Nphs1 A T 7: 30,163,012 (GRCm39) T430S probably damaging Het
Nrp1 T C 8: 129,152,262 (GRCm39) V157A probably benign Het
Nup188 T A 2: 30,197,724 (GRCm39) D259E probably benign Het
Or52n5 T C 7: 104,588,207 (GRCm39) M158T probably benign Het
Or5b109 A T 19: 13,211,953 (GRCm39) N113I Het
Or8b1c A G 9: 38,384,913 (GRCm39) Y290C probably damaging Het
Or9s18 G T 13: 65,300,885 (GRCm39) M282I probably benign Het
Pcdha8 T A 18: 37,126,217 (GRCm39) L233Q probably damaging Het
Pcdhga12 T A 18: 37,901,389 (GRCm39) F740L probably damaging Het
Pglyrp4 G A 3: 90,638,151 (GRCm39) G155D probably damaging Het
Piezo2 G A 18: 63,519,347 (GRCm39) probably benign Het
Pirb G A 7: 3,720,617 (GRCm39) R294C possibly damaging Het
Ppil1 A T 17: 29,470,481 (GRCm39) *167K probably null Het
Prdm10 G T 9: 31,260,486 (GRCm39) D647Y probably damaging Het
Prkn A G 17: 12,222,963 (GRCm39) Y371C probably damaging Het
Prrc2b T A 2: 32,098,794 (GRCm39) I702N probably damaging Het
Rnf26rt A T 6: 76,473,923 (GRCm39) L231* probably null Het
Rtp4 T A 16: 23,339,226 (GRCm39) probably null Het
Sema6c A G 3: 95,076,545 (GRCm39) H277R probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc41a2 A G 10: 83,119,631 (GRCm39) L377P probably damaging Het
Svil T C 18: 5,058,126 (GRCm39) Y630H possibly damaging Het
Tbata A G 10: 61,011,626 (GRCm39) H54R probably benign Het
Tnfaip2 C A 12: 111,412,069 (GRCm39) Q157K possibly damaging Het
Trappc14 T C 5: 138,259,862 (GRCm39) D398G probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn2r74 T A 7: 85,610,619 (GRCm39) R24S probably benign Het
Vmn2r90 G A 17: 17,953,638 (GRCm39) V601M possibly damaging Het
Vmn2r-ps117 A G 17: 19,043,940 (GRCm39) T339A probably benign Het
Xirp2 C T 2: 67,341,106 (GRCm39) H1116Y possibly damaging Het
Xrcc1 A G 7: 24,265,690 (GRCm39) D156G probably benign 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
R5279:Gon4l UTSW 3 88,794,944 (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
Z1177:Gon4l UTSW 3 88,766,343 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGTGAAAGATTTGATTCCTGCC -3'
(R):5'- CCATGACTAGGTCTCAGTCGTC -3'

Sequencing Primer
(F):5'- GGCTTGGTTGCTTACACCCAG -3'
(R):5'- GACTAGGTCTCAGTCGTCTCTTAAC -3'
Posted On 2022-09-12