Incidental Mutation 'IGL01966:Cramp1'
ID 181542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cramp1
Ensembl Gene ENSMUSG00000038002
Gene Name cramped chromatin regulator 1
Synonyms 5830477H08Rik, Tce4, Cramp1l
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01966
Quality Score
Status
Chromosome 17
Chromosomal Location 25180200-25234762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25201917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 522 (T522S)
Ref Sequence ENSEMBL: ENSMUSP00000073060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073337]
AlphaFold Q6PG95
Predicted Effect probably benign
Transcript: ENSMUST00000073337
AA Change: T522S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: T522S

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
low complexity region 29 43 N/A INTRINSIC
low complexity region 51 64 N/A INTRINSIC
low complexity region 100 126 N/A INTRINSIC
low complexity region 134 147 N/A INTRINSIC
SANT 159 219 3.68e-3 SMART
low complexity region 479 503 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
low complexity region 792 803 N/A INTRINSIC
low complexity region 833 845 N/A INTRINSIC
low complexity region 889 903 N/A INTRINSIC
low complexity region 1069 1086 N/A INTRINSIC
low complexity region 1113 1124 N/A INTRINSIC
low complexity region 1141 1156 N/A INTRINSIC
low complexity region 1171 1185 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik A G 4: 155,818,526 (GRCm39) probably null Het
Acer2 T A 4: 86,835,815 (GRCm39) *230R probably null Het
Adamts12 A G 15: 11,258,269 (GRCm39) K527E probably damaging Het
Anks1b C A 10: 90,730,994 (GRCm39) R937S probably damaging Het
C2cd5 G T 6: 142,957,767 (GRCm39) C989* probably null Het
Calhm5 T C 10: 33,972,129 (GRCm39) H102R probably benign Het
Col14a1 A G 15: 55,312,121 (GRCm39) probably benign Het
Cyp2c70 A T 19: 40,142,016 (GRCm39) probably benign Het
Elmod1 T A 9: 53,828,611 (GRCm39) I224F probably benign Het
Emx2 T A 19: 59,448,021 (GRCm39) I24N possibly damaging Het
Fga A T 3: 82,936,461 (GRCm39) I86F probably damaging Het
Fig4 C A 10: 41,108,098 (GRCm39) probably null Het
Gm10234 T C 6: 95,299,118 (GRCm39) probably null Het
Gm12588 A T 11: 121,797,561 (GRCm39) I96N probably benign Het
Grm3 A G 5: 9,561,486 (GRCm39) I788T probably damaging Het
Homer3 A G 8: 70,742,807 (GRCm39) K173E probably damaging Het
Kansl1l A G 1: 66,777,227 (GRCm39) V635A probably damaging Het
Kctd3 C T 1: 188,724,859 (GRCm39) G241R probably damaging Het
Krt8 G T 15: 101,906,105 (GRCm39) S423R probably benign Het
Lrrc24 C A 15: 76,602,511 (GRCm39) A125S probably benign Het
Muc4 T C 16: 32,570,244 (GRCm39) S435P possibly damaging Het
Nfkb2 G A 19: 46,298,129 (GRCm39) G502D probably benign Het
Nlrp6 G A 7: 140,505,103 (GRCm39) C750Y probably damaging Het
Or8b1b A T 9: 38,376,225 (GRCm39) D296V possibly damaging Het
Oxsm T C 14: 16,242,520 (GRCm38) N83S probably benign Het
Paqr3 A G 5: 97,247,502 (GRCm39) L202P probably benign Het
Pcdh10 T A 3: 45,334,733 (GRCm39) L349Q probably benign Het
Ptdss2 A G 7: 140,715,304 (GRCm39) T29A possibly damaging Het
Rbbp8nl G A 2: 179,922,782 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,272,789 (GRCm39) probably benign Het
Ric1 A T 19: 29,572,963 (GRCm39) Y801F probably benign Het
Sgcz A T 8: 38,107,169 (GRCm39) S114R probably damaging Het
Tenm4 A G 7: 96,202,757 (GRCm39) D124G probably damaging Het
Zscan22 T G 7: 12,640,398 (GRCm39) M214R probably benign Het
Other mutations in Cramp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Cramp1 APN 17 25,202,925 (GRCm39) missense probably benign 0.11
IGL01360:Cramp1 APN 17 25,216,547 (GRCm39) missense probably damaging 1.00
IGL02211:Cramp1 APN 17 25,196,610 (GRCm39) missense possibly damaging 0.94
IGL02474:Cramp1 APN 17 25,204,024 (GRCm39) missense probably damaging 0.98
IGL02798:Cramp1 APN 17 25,187,894 (GRCm39) splice site probably benign
IGL03340:Cramp1 APN 17 25,192,516 (GRCm39) missense probably damaging 1.00
Interred UTSW 17 25,202,956 (GRCm39) missense probably damaging 0.99
R0106:Cramp1 UTSW 17 25,191,350 (GRCm39) missense probably benign 0.30
R1054:Cramp1 UTSW 17 25,202,151 (GRCm39) missense probably damaging 1.00
R1220:Cramp1 UTSW 17 25,201,211 (GRCm39) missense probably damaging 1.00
R1341:Cramp1 UTSW 17 25,196,514 (GRCm39) missense probably damaging 1.00
R1491:Cramp1 UTSW 17 25,191,323 (GRCm39) missense probably benign 0.17
R1610:Cramp1 UTSW 17 25,202,925 (GRCm39) missense probably benign 0.11
R1649:Cramp1 UTSW 17 25,202,217 (GRCm39) missense probably damaging 1.00
R1795:Cramp1 UTSW 17 25,183,884 (GRCm39) missense probably damaging 1.00
R1856:Cramp1 UTSW 17 25,187,952 (GRCm39) missense probably damaging 1.00
R1881:Cramp1 UTSW 17 25,196,656 (GRCm39) splice site probably benign
R1968:Cramp1 UTSW 17 25,183,913 (GRCm39) missense probably damaging 1.00
R2047:Cramp1 UTSW 17 25,222,189 (GRCm39) nonsense probably null
R2099:Cramp1 UTSW 17 25,192,059 (GRCm39) missense probably benign 0.01
R2298:Cramp1 UTSW 17 25,216,454 (GRCm39) missense probably damaging 0.96
R3752:Cramp1 UTSW 17 25,190,532 (GRCm39) missense probably damaging 1.00
R3821:Cramp1 UTSW 17 25,193,756 (GRCm39) missense probably damaging 1.00
R3861:Cramp1 UTSW 17 25,216,588 (GRCm39) splice site probably benign
R4399:Cramp1 UTSW 17 25,198,559 (GRCm39) missense probably damaging 1.00
R4847:Cramp1 UTSW 17 25,204,063 (GRCm39) missense probably damaging 1.00
R4883:Cramp1 UTSW 17 25,201,293 (GRCm39) missense probably benign
R5579:Cramp1 UTSW 17 25,192,087 (GRCm39) missense possibly damaging 0.89
R5631:Cramp1 UTSW 17 25,204,577 (GRCm39) missense possibly damaging 0.93
R5716:Cramp1 UTSW 17 25,193,709 (GRCm39) missense probably damaging 0.99
R6589:Cramp1 UTSW 17 25,196,466 (GRCm39) splice site probably null
R6631:Cramp1 UTSW 17 25,202,931 (GRCm39) missense probably benign 0.40
R7307:Cramp1 UTSW 17 25,193,719 (GRCm39) missense possibly damaging 0.94
R7323:Cramp1 UTSW 17 25,201,379 (GRCm39) missense possibly damaging 0.90
R7672:Cramp1 UTSW 17 25,201,440 (GRCm39) missense probably damaging 0.96
R7832:Cramp1 UTSW 17 25,202,196 (GRCm39) missense probably damaging 0.96
R8071:Cramp1 UTSW 17 25,201,674 (GRCm39) missense probably damaging 0.99
R8244:Cramp1 UTSW 17 25,190,384 (GRCm39) missense probably damaging 1.00
R8430:Cramp1 UTSW 17 25,196,536 (GRCm39) missense probably damaging 1.00
R8783:Cramp1 UTSW 17 25,193,732 (GRCm39) missense probably damaging 0.99
R8890:Cramp1 UTSW 17 25,202,114 (GRCm39) missense probably damaging 1.00
R8892:Cramp1 UTSW 17 25,202,114 (GRCm39) missense probably damaging 1.00
R8894:Cramp1 UTSW 17 25,202,114 (GRCm39) missense probably damaging 1.00
R8937:Cramp1 UTSW 17 25,202,956 (GRCm39) missense probably damaging 0.99
R8941:Cramp1 UTSW 17 25,202,114 (GRCm39) missense probably damaging 1.00
R9029:Cramp1 UTSW 17 25,232,884 (GRCm39) missense probably damaging 1.00
R9047:Cramp1 UTSW 17 25,198,603 (GRCm39) missense possibly damaging 0.90
R9149:Cramp1 UTSW 17 25,187,920 (GRCm39) missense probably damaging 0.99
R9262:Cramp1 UTSW 17 25,232,920 (GRCm39) missense probably damaging 0.99
R9460:Cramp1 UTSW 17 25,222,281 (GRCm39) missense probably damaging 1.00
R9614:Cramp1 UTSW 17 25,201,783 (GRCm39) missense probably damaging 1.00
R9615:Cramp1 UTSW 17 25,201,783 (GRCm39) missense probably damaging 1.00
R9651:Cramp1 UTSW 17 25,201,783 (GRCm39) missense probably damaging 1.00
R9652:Cramp1 UTSW 17 25,201,783 (GRCm39) missense probably damaging 1.00
R9653:Cramp1 UTSW 17 25,201,783 (GRCm39) missense probably damaging 1.00
R9665:Cramp1 UTSW 17 25,196,545 (GRCm39) missense probably damaging 1.00
R9753:Cramp1 UTSW 17 25,191,320 (GRCm39) missense possibly damaging 0.81
Posted On 2014-05-07