Incidental Mutation 'R1054:Cramp1l'
ID94228
Institutional Source Beutler Lab
Gene Symbol Cramp1l
Ensembl Gene ENSMUSG00000038002
Gene Namecramped chromatin regulator homolog 1
Synonyms5830477H08Rik, Tce4
MMRRC Submission 039144-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1054 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location24961228-25015230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24983177 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 444 (I444F)
Ref Sequence ENSEMBL: ENSMUSP00000073060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073337]
Predicted Effect probably damaging
Transcript: ENSMUST00000073337
AA Change: I444F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: I444F

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,751,559 T159A probably benign Het
Arhgef38 T C 3: 133,116,465 Y763C probably damaging Het
Arv1 T A 8: 124,731,872 F245Y probably benign Het
Ccdc175 A G 12: 72,178,544 I113T possibly damaging Het
Cdc42bpb A T 12: 111,313,353 M932K probably benign Het
Cdh15 T C 8: 122,864,337 F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 D105N probably damaging Het
Cpne4 A G 9: 105,022,401 T428A probably benign Het
Dhx32 T A 7: 133,725,272 K360M probably damaging Het
Dna2 T A 10: 62,963,823 C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 142,082,067 probably benign Het
Eif3f G A 7: 108,937,817 probably null Het
Elmod1 T C 9: 53,912,774 D310G probably benign Het
Fam105a T C 15: 27,664,549 R79G probably damaging Het
Fn1 A G 1: 71,586,214 *2272Q probably null Het
Gm12800 A G 4: 101,909,164 E15G probably benign Het
Gm8765 T C 13: 50,702,396 V690A probably benign Het
Gnat1 A G 9: 107,677,439 S76P probably damaging Het
Gtf2f2 T C 14: 75,995,445 T94A probably benign Het
Hacd4 A T 4: 88,423,027 W152R probably damaging Het
Kcnh8 A G 17: 52,803,484 Y241C probably damaging Het
Lepr T C 4: 101,782,596 I753T probably damaging Het
Med12l C T 3: 59,248,651 H1162Y probably damaging Het
Med25 C T 7: 44,880,380 A485T probably benign Het
Mup5 A T 4: 61,832,634 S145R probably benign Het
Myo1g A G 11: 6,518,987 V105A probably damaging Het
Npc2 A G 12: 84,760,718 probably null Het
Olfr414 A G 1: 174,430,853 T142A probably benign Het
Olfr648 A G 7: 104,180,291 I39T probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Pop1 T C 15: 34,509,809 V353A probably benign Het
Pou3f2 A G 4: 22,487,536 V199A possibly damaging Het
Ptprm A T 17: 67,042,318 N43K probably damaging Het
Qrsl1 C T 10: 43,882,081 D339N probably damaging Het
Rpl13-ps3 C A 14: 58,893,945 noncoding transcript Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr16c6 A G 4: 4,069,908 V144A probably damaging Het
Spata31d1b C A 13: 59,717,518 H827N probably damaging Het
Taf4b T A 18: 14,821,473 H535Q probably benign Het
Timmdc1 A G 16: 38,522,428 V36A probably benign Het
Tmem74b C T 2: 151,706,419 A22V probably benign Het
Txnrd3 T A 6: 89,650,561 Y65* probably null Het
Vmn1r200 T A 13: 22,395,454 S133R probably damaging Het
Vwf G A 6: 125,590,227 C311Y probably damaging Het
Wipf2 G A 11: 98,896,315 R390H possibly damaging Het
Zfp282 T A 6: 47,904,599 S407T probably benign Het
Other mutations in Cramp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Cramp1l APN 17 24983951 missense probably benign 0.11
IGL01360:Cramp1l APN 17 24997573 missense probably damaging 1.00
IGL01966:Cramp1l APN 17 24982943 missense probably benign 0.01
IGL02211:Cramp1l APN 17 24977636 missense possibly damaging 0.94
IGL02474:Cramp1l APN 17 24985050 missense probably damaging 0.98
IGL02798:Cramp1l APN 17 24968920 splice site probably benign
IGL03340:Cramp1l APN 17 24973542 missense probably damaging 1.00
R0106:Cramp1l UTSW 17 24972376 missense probably benign 0.30
R1220:Cramp1l UTSW 17 24982237 missense probably damaging 1.00
R1341:Cramp1l UTSW 17 24977540 missense probably damaging 1.00
R1491:Cramp1l UTSW 17 24972349 missense probably benign 0.17
R1610:Cramp1l UTSW 17 24983951 missense probably benign 0.11
R1649:Cramp1l UTSW 17 24983243 missense probably damaging 1.00
R1795:Cramp1l UTSW 17 24964910 missense probably damaging 1.00
R1856:Cramp1l UTSW 17 24968978 missense probably damaging 1.00
R1881:Cramp1l UTSW 17 24977682 splice site probably benign
R1968:Cramp1l UTSW 17 24964939 missense probably damaging 1.00
R2047:Cramp1l UTSW 17 25003215 nonsense probably null
R2099:Cramp1l UTSW 17 24973085 missense probably benign 0.01
R2298:Cramp1l UTSW 17 24997480 missense probably damaging 0.96
R3752:Cramp1l UTSW 17 24971558 missense probably damaging 1.00
R3821:Cramp1l UTSW 17 24974782 missense probably damaging 1.00
R3861:Cramp1l UTSW 17 24997614 splice site probably benign
R4399:Cramp1l UTSW 17 24979585 missense probably damaging 1.00
R4847:Cramp1l UTSW 17 24985089 missense probably damaging 1.00
R4883:Cramp1l UTSW 17 24982319 missense probably benign
R5579:Cramp1l UTSW 17 24973113 missense possibly damaging 0.89
R5631:Cramp1l UTSW 17 24985603 missense possibly damaging 0.93
R5716:Cramp1l UTSW 17 24974735 missense probably damaging 0.99
R6589:Cramp1l UTSW 17 24977492 splice site probably null
R6631:Cramp1l UTSW 17 24983957 missense probably benign 0.40
R7307:Cramp1l UTSW 17 24974745 missense possibly damaging 0.94
R7323:Cramp1l UTSW 17 24982405 missense possibly damaging 0.90
R7672:Cramp1l UTSW 17 24982466 missense probably damaging 0.96
R7832:Cramp1l UTSW 17 24983222 missense probably damaging 0.96
R8071:Cramp1l UTSW 17 24982700 missense probably damaging 0.99
R8244:Cramp1l UTSW 17 24971410 missense probably damaging 1.00
R8430:Cramp1l UTSW 17 24977562 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCAAGGTGTGGTCCAGAGTCC -3'
(R):5'- TTCAAGCACAGTGCAGACCCAG -3'

Sequencing Primer
(F):5'- AGAGTCCTGGAGCCCATGAG -3'
(R):5'- CCCAGGAGAAGGTGGCATTG -3'
Posted On2014-01-05