Incidental Mutation 'R6217:Gon4l'
ID 503764
Institutional Source Beutler Lab
Gene Symbol Gon4l
Ensembl Gene ENSMUSG00000054199
Gene Name gon-4 like
Synonyms 1500041I23Rik, 2610100B20Rik
MMRRC Submission 044350-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R6217 (G1)
Quality Score 133.008
Status Validated
Chromosome 3
Chromosomal Location 88742531-88817406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88799968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 871 (V871A)
Ref Sequence ENSEMBL: ENSMUSP00000103122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107498]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000081695
AA Change: V871A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: V871A

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 possibly damaging
Transcript: ENSMUST00000090942
AA Change: V872A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: V872A

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 possibly damaging
Transcript: ENSMUST00000107498
AA Change: V871A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: V871A

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 probably benign
Transcript: ENSMUST00000212694
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adamts20 T C 15: 94,236,596 (GRCm39) D808G probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arsk T A 13: 76,239,935 (GRCm39) Q46L unknown Het
Asnsd1 A G 1: 53,387,187 (GRCm39) F147L probably benign Het
Atp5f1a T A 18: 77,869,056 (GRCm39) S427T probably benign Het
Atp6v1b2 A C 8: 69,562,530 (GRCm39) probably null Het
AU021092 T A 16: 5,030,050 (GRCm39) T322S possibly damaging Het
Bcl7c A T 7: 127,307,698 (GRCm39) M1K probably null Het
Cacna1i T C 15: 80,273,333 (GRCm39) V1673A probably damaging Het
Ccdc146 A T 5: 21,522,900 (GRCm39) probably null Het
Cdc7 A G 5: 107,120,660 (GRCm39) D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Chd3 T A 11: 69,236,361 (GRCm39) Q1950L probably damaging Het
Cutc T C 19: 43,748,436 (GRCm39) L111S probably damaging Het
Cyp2j6 A G 4: 96,406,398 (GRCm39) F458L probably damaging Het
Ddhd1 T C 14: 45,856,971 (GRCm39) probably null Het
Dstyk T C 1: 132,387,677 (GRCm39) S804P probably damaging Het
Ech1 A G 7: 28,531,261 (GRCm39) D283G possibly damaging Het
Exosc10 A G 4: 148,666,768 (GRCm39) probably null Het
Fancg A C 4: 43,010,084 (GRCm39) V5G probably benign Het
Fbxo11 A G 17: 88,316,332 (GRCm39) V394A probably benign Het
Fcmr C T 1: 130,806,060 (GRCm39) R339W probably damaging Het
Fhip2b T C 14: 70,829,198 (GRCm39) probably null Het
Fsip2 T A 2: 82,818,762 (GRCm39) L4832M possibly damaging Het
Gab1 A G 8: 81,518,237 (GRCm39) V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 (GRCm39) probably null Het
Hspg2 A G 4: 137,267,559 (GRCm39) T2056A probably damaging Het
Lrrc3 T A 10: 77,736,843 (GRCm39) T198S probably benign Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Ltbr C T 6: 125,284,417 (GRCm39) V342M probably damaging Het
Muc16 A T 9: 18,566,742 (GRCm39) S1926T unknown Het
Ntn1 C A 11: 68,104,158 (GRCm39) V497F possibly damaging Het
Or2ag18 A T 7: 106,405,279 (GRCm39) L130Q probably damaging Het
Or5k17 T C 16: 58,746,877 (GRCm39) D19G probably benign Het
Or8g22 A T 9: 38,958,039 (GRCm39) *270R probably null Het
Osmr T C 15: 6,853,047 (GRCm39) Y615C probably damaging Het
Pcdhgb2 T C 18: 37,823,054 (GRCm39) V15A possibly damaging Het
Pkd2l2 A G 18: 34,547,733 (GRCm39) N162S probably benign Het
Ppp1r12a G A 10: 108,076,045 (GRCm39) probably null Het
Prss59 G A 6: 40,903,019 (GRCm39) P118S possibly damaging Het
Prtg C T 9: 72,812,076 (GRCm39) P899S probably damaging Het
Ptprn A T 1: 75,224,810 (GRCm39) S912R probably damaging Het
Rex2 A G 4: 147,141,931 (GRCm39) T140A possibly damaging Het
Ryr2 T G 13: 11,848,964 (GRCm39) D339A probably damaging Het
Sf3b1 C T 1: 55,046,677 (GRCm39) R289H probably damaging Het
Slc17a9 A G 2: 180,379,455 (GRCm39) D309G probably benign Het
Slc4a10 A G 2: 62,134,295 (GRCm39) R1004G probably benign Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Syne1 C T 10: 5,243,761 (GRCm39) G2801D probably benign Het
Tenm3 A T 8: 48,746,700 (GRCm39) V1026D probably damaging Het
Ticam1 A T 17: 56,577,730 (GRCm39) I455N probably damaging Het
Tmem161b A G 13: 84,399,363 (GRCm39) I6M possibly damaging Het
Ubn1 A G 16: 4,895,096 (GRCm39) E714G probably damaging Het
Ush2a T G 1: 188,475,651 (GRCm39) probably null Het
Usp19 G A 9: 108,377,343 (GRCm39) V874M probably damaging Het
Vmn2r106 T C 17: 20,488,501 (GRCm39) T633A probably benign Het
Vmn2r75 A T 7: 85,815,375 (GRCm39) probably benign Het
Zfyve27 T C 19: 42,178,016 (GRCm39) V386A probably damaging Het
Zscan20 A T 4: 128,498,327 (GRCm39) W24R 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
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 PCR Primer
(F):5'- AACTCTCTAAGGGTGTGGGAGG -3'
(R):5'- AGTTCCAACCCTGCTGAGTAAC -3'

Sequencing Primer
(F):5'- GTTGAAGAGCTCCTTGCAGAACC -3'
(R):5'- TGCTGAGTAACACCACAGTAAG -3'
Posted On 2018-02-27