Incidental Mutation 'R9132:Gon4l'
ID 693690
Institutional Source Beutler Lab
Gene Symbol Gon4l
Ensembl Gene ENSMUSG00000054199
Gene Name gon-4 like
Synonyms 1500041I23Rik, 2610100B20Rik
MMRRC Submission 068929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R9132 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88742531-88817406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88815484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 2016 (P2016S)
Ref Sequence ENSEMBL: ENSMUSP00000103122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107494] [ENSMUST00000107498] [ENSMUST00000126245]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081695
AA Change: P2016S

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: P2016S

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: P2017S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: P2017S

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: ENSMUST00000107494
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
Pfam:Tubulin_3 153 345 5.3e-28 PFAM
Pfam:Tubulin 169 300 7.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107498
AA Change: P2016S

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: P2016S

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: ENSMUST00000126245
SMART Domains Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922

DomainStartEndE-ValueType
Pfam:Misat_Tub_SegII 6 120 2.1e-36 PFAM
Pfam:Tubulin_3 140 332 1.9e-27 PFAM
Pfam:Tubulin 151 288 8.7e-12 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (65/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AC133488.1 A T 16: 18,440,075 (GRCm39) V363E probably benign Het
Adamts16 A G 13: 70,901,408 (GRCm39) S890P probably benign Het
Amd1 A G 10: 40,169,158 (GRCm39) probably null Het
Apcs A G 1: 172,722,061 (GRCm39) I95T probably damaging Het
Arhgap18 A G 10: 26,730,886 (GRCm39) D188G probably benign Het
Arhgap42 C T 9: 9,011,419 (GRCm39) V456M probably damaging Het
Atp2a2 T C 5: 122,599,633 (GRCm39) Y586C probably damaging Het
Cbr1 G C 16: 93,406,794 (GRCm39) G170A probably benign Het
Cdh23 T A 10: 60,270,283 (GRCm39) probably benign Het
Cfap53 T A 18: 74,416,272 (GRCm39) Y2N probably damaging Het
Clcn3 A G 8: 61,382,136 (GRCm39) I511T probably damaging Het
Col28a1 T A 6: 8,014,993 (GRCm39) D804V probably damaging Het
Csmd2 A G 4: 128,443,007 (GRCm39) T3253A Het
Csta3 G A 16: 36,038,069 (GRCm39) V69I probably benign Het
Cyp2c40 A T 19: 39,762,317 (GRCm39) D443E probably damaging Het
Cyp7b1 A G 3: 18,151,476 (GRCm39) C246R probably benign Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnai4 A G 4: 102,916,930 (GRCm39) M592T probably damaging Het
Dpyd T A 3: 118,710,897 (GRCm39) I435N probably damaging Het
Fat2 A T 11: 55,189,436 (GRCm39) L1194Q possibly damaging Het
Firrm A G 1: 163,814,514 (GRCm39) I143T probably damaging Het
Gabrg1 A T 5: 70,939,622 (GRCm39) I170N possibly damaging Het
Hax1 T C 3: 89,903,127 (GRCm39) R251G probably damaging Het
Hbq1b A T 11: 32,237,228 (GRCm39) K41* probably null Het
Ido2 G A 8: 25,023,933 (GRCm39) P302S probably damaging Het
Igf2bp2 G A 16: 21,900,502 (GRCm39) T213I probably damaging Het
Itga2 A T 13: 115,014,298 (GRCm39) L210* probably null Het
Kdm1b G A 13: 47,225,458 (GRCm39) S547N probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Lyz2 A T 10: 117,116,562 (GRCm39) C95* probably null Het
Mafa A T 15: 75,619,048 (GRCm39) S242T possibly damaging Het
Mapk1 T C 16: 16,856,300 (GRCm39) probably null Het
Mta1 T A 12: 113,100,025 (GRCm39) V645E probably damaging Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Naa35 T C 13: 59,772,341 (GRCm39) I438T possibly damaging Het
Necab2 T C 8: 120,189,303 (GRCm39) Y158H probably damaging Het
Nphp3 T A 9: 103,897,980 (GRCm39) L523Q probably damaging Het
Ogdh A T 11: 6,290,488 (GRCm39) I369F probably benign Het
Pglyrp4 C T 3: 90,635,238 (GRCm39) Q28* probably null Het
Pla2g4a C T 1: 149,747,230 (GRCm39) V319I probably benign Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Prdm6 C A 18: 53,598,019 (GRCm39) A127D unknown Het
Prop1 T G 11: 50,843,037 (GRCm39) E50A Het
Ripk1 A G 13: 34,212,184 (GRCm39) N498S probably benign Het
Rnf213 A G 11: 119,374,742 (GRCm39) N5069S Het
Saa3 T C 7: 46,362,121 (GRCm39) D41G probably damaging Het
Setd2 T C 9: 110,374,385 (GRCm39) probably null Het
Shbg G A 11: 69,506,430 (GRCm39) L327F probably benign Het
Slc12a5 G A 2: 164,835,876 (GRCm39) probably benign Het
Slc1a4 C T 11: 20,258,527 (GRCm39) G304D probably damaging Het
Slf1 T C 13: 77,249,073 (GRCm39) K372E probably benign Het
Smad2 T A 18: 76,395,573 (GRCm39) I4N possibly damaging Het
Smad6 A C 9: 63,914,870 (GRCm39) S300A probably benign Het
Spata31h1 T C 10: 82,127,896 (GRCm39) T1705A possibly damaging Het
Spem2 T A 11: 69,707,414 (GRCm39) probably benign Het
Syde1 T C 10: 78,425,340 (GRCm39) S224G probably benign Het
Tacc1 A T 8: 25,672,151 (GRCm39) V359E possibly damaging Het
Tex15 T G 8: 34,067,554 (GRCm39) V2328G possibly damaging Het
Tmem43 A C 6: 91,459,291 (GRCm39) D254A probably benign Het
Trav6d-3 T A 14: 52,964,210 (GRCm39) Y58N possibly damaging Het
Trrap A G 5: 144,726,362 (GRCm39) E437G probably benign Het
Wars1 A G 12: 108,827,199 (GRCm39) F474L probably benign Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp541 T A 7: 15,816,966 (GRCm39) V918D probably benign Het
Zfp747 T C 7: 126,974,922 (GRCm39) D26G probably 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
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
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 PCR Primer
(F):5'- TTCCTTCTAAGCAGGGTCAAC -3'
(R):5'- TCGATGAGCCAACTCTGACTG -3'

Sequencing Primer
(F):5'- TCCTTCTAAGCAGGGTCAACAATAGG -3'
(R):5'- AGCCAACTCTGACTGCCTGC -3'
Posted On 2022-01-20