Incidental Mutation 'R6415:Sub1'
ID 517895
Institutional Source Beutler Lab
Gene Symbol Sub1
Ensembl Gene ENSMUSG00000022205
Gene Name SUB1 homolog, transcriptional regulator
Synonyms P15, Pc4, Rpo2tc1
MMRRC Submission 044557-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # R6415 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 11981422-11996091 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11986560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 96 (M96L)
Ref Sequence ENSEMBL: ENSMUSP00000106130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022816] [ENSMUST00000110504]
AlphaFold P11031
Predicted Effect probably benign
Transcript: ENSMUST00000022816
AA Change: M96L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000022816
Gene: ENSMUSG00000022205
AA Change: M96L

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
Pfam:PC4 62 117 5.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110504
AA Change: M96L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106130
Gene: ENSMUSG00000022205
AA Change: M96L

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
Pfam:PC4 64 116 1.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134414
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (65/65)
MGI Phenotype PHENOTYPE: Homozygous KO is embryonic lethal. Conditional KO in the brain increases sensitivity of hippocampal neurons to hypoxia, causing changes in movement, activity and spatial memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,881,296 (GRCm39) T482M probably benign Het
Adam9 A G 8: 25,468,498 (GRCm39) Y513H probably damaging Het
Adamts20 C T 15: 94,222,540 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,759 (GRCm39) D326G probably damaging Het
Cacna1g A G 11: 94,354,243 (GRCm39) I224T probably damaging Het
Ccdc18 A G 5: 108,309,612 (GRCm39) I402M probably benign Het
Cckar A T 5: 53,860,398 (GRCm39) C73S probably damaging Het
Cdk13 C T 13: 17,913,739 (GRCm39) R880H probably damaging Het
Col1a1 A G 11: 94,830,986 (GRCm39) N218D unknown Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp2c69 A G 19: 39,831,365 (GRCm39) F483L probably benign Het
Ddx60 A G 8: 62,436,939 (GRCm39) D963G probably benign Het
Dhx8 G T 11: 101,628,513 (GRCm39) A142S unknown Het
Dock7 C T 4: 98,880,685 (GRCm39) R926Q probably damaging Het
Dscaml1 C T 9: 45,594,975 (GRCm39) Q693* probably null Het
Dysf G A 6: 84,117,024 (GRCm39) C1234Y probably damaging Het
Ercc1 G A 7: 19,089,102 (GRCm39) probably null Het
Fam91a1 T C 15: 58,314,766 (GRCm39) L549P probably damaging Het
Fxyd2 T A 9: 45,314,592 (GRCm39) Y5N possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gpr182 T A 10: 127,586,375 (GRCm39) D192V possibly damaging Het
Gps1 T C 11: 120,678,548 (GRCm39) V286A possibly damaging Het
Grk1 A G 8: 13,463,127 (GRCm39) Y383C probably damaging Het
H2bc15 T C 13: 21,938,656 (GRCm39) Y122H probably benign Het
Hic1 G A 11: 75,057,143 (GRCm39) P582L possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Khdc4 T C 3: 88,607,279 (GRCm39) F328L probably benign Het
Lactb T C 9: 66,877,927 (GRCm39) K301E possibly damaging Het
Lrp3 A T 7: 34,903,593 (GRCm39) V251E probably benign Het
Mapt G A 11: 104,189,824 (GRCm39) G265S probably benign Het
Obscn A T 11: 58,925,956 (GRCm39) D6245E probably damaging Het
Or10al2 G T 17: 37,983,448 (GRCm39) C178F possibly damaging Het
Or1j12 A G 2: 36,342,617 (GRCm39) S7G probably damaging Het
Or4b1c T A 2: 90,126,381 (GRCm39) I275F probably damaging Het
Or4c10b T C 2: 89,711,206 (GRCm39) L12P probably damaging Het
Or6c207 T C 10: 129,104,890 (GRCm39) T101A probably benign Het
Or7e165 T A 9: 19,695,044 (GRCm39) I205N probably damaging Het
Or7g19 T C 9: 18,856,415 (GRCm39) L157P probably damaging Het
Oxsm A T 14: 16,241,904 (GRCm38) H288Q probably benign Het
Pcdh9 C T 14: 93,253,278 (GRCm39) M1128I possibly damaging Het
Pcdha8 T C 18: 37,127,614 (GRCm39) Y699H probably damaging Het
Pgk2 A T 17: 40,518,459 (GRCm39) I323N probably benign Het
Plin4 A G 17: 56,410,264 (GRCm39) V1216A probably damaging Het
Ppargc1a T C 5: 51,620,176 (GRCm39) probably benign Het
Prelp A T 1: 133,840,516 (GRCm39) I322N probably benign Het
Prelp A T 1: 133,842,395 (GRCm39) I250N probably damaging Het
Prss27 T A 17: 24,261,882 (GRCm39) C63* probably null Het
Rab38 G A 7: 88,079,748 (GRCm39) A47T possibly damaging Het
Rprd2 G A 3: 95,681,531 (GRCm39) A436V probably benign Het
Sacs A T 14: 61,442,808 (GRCm39) N1618I probably damaging Het
Scp2 T G 4: 107,962,337 (GRCm39) S63R probably benign Het
Sftpb T G 6: 72,281,633 (GRCm39) W9G probably damaging Het
Slco1a4 A T 6: 141,780,415 (GRCm39) L125* probably null Het
Sptlc1 T C 13: 53,505,728 (GRCm39) probably null Het
Tanc1 T C 2: 59,667,458 (GRCm39) V1233A probably benign Het
Tmem140 A T 6: 34,849,658 (GRCm39) D58V probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Tpt1 T C 14: 76,083,811 (GRCm39) Y91H probably benign Het
Trap1 C T 16: 3,861,856 (GRCm39) R636H possibly damaging Het
Ttc14 A G 3: 33,857,724 (GRCm39) H275R possibly damaging Het
Tut7 T A 13: 59,964,110 (GRCm39) probably null Het
Vps35l T C 7: 118,391,869 (GRCm39) W494R probably damaging Het
Ypel1 A G 16: 16,921,438 (GRCm39) probably null Het
Zbtb44 T A 9: 30,975,510 (GRCm39) I380N possibly damaging Het
Zswim5 T C 4: 116,838,063 (GRCm39) F798L possibly damaging Het
Other mutations in Sub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1244:Sub1 UTSW 15 11,991,130 (GRCm39) missense possibly damaging 0.49
R1893:Sub1 UTSW 15 11,991,130 (GRCm39) missense possibly damaging 0.49
R7090:Sub1 UTSW 15 11,986,572 (GRCm39) missense probably benign 0.00
R7269:Sub1 UTSW 15 11,993,937 (GRCm39) missense probably benign 0.23
R7729:Sub1 UTSW 15 11,986,589 (GRCm39) missense probably damaging 1.00
R8814:Sub1 UTSW 15 11,984,317 (GRCm39) missense probably damaging 0.97
R9732:Sub1 UTSW 15 11,986,650 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GCCTAATCTGCCTAGGAACTG -3'
(R):5'- CCCCTTCCAATTGCAGTTGAATAC -3'

Sequencing Primer
(F):5'- GATCAATTCAACGTGACAATAGATGC -3'
(R):5'- TTGCAGTTGAATACTTATTCCAGG -3'
Posted On 2018-05-24