Incidental Mutation 'R1144:Hmbox1'
ID102319
Institutional Source Beutler Lab
Gene Symbol Hmbox1
Ensembl Gene ENSMUSG00000021972
Gene Namehomeobox containing 1
SynonymsF830020C16Rik
MMRRC Submission 039217-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.780) question?
Stock #R1144 (G1)
Quality Score223
Status Validated
Chromosome14
Chromosomal Location64811600-64949871 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64825683 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 347 (L347Q)
Ref Sequence ENSEMBL: ENSMUSP00000135211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022544] [ENSMUST00000067843] [ENSMUST00000175744] [ENSMUST00000175905] [ENSMUST00000176128] [ENSMUST00000176489] [ENSMUST00000176832]
Predicted Effect probably damaging
Transcript: ENSMUST00000022544
AA Change: L348Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: L348Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 19 231 2.3e-15 PFAM
HOX 267 344 6.18e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000067843
AA Change: L347Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: L347Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 19 231 2.5e-15 PFAM
HOX 267 344 8.74e-9 SMART
low complexity region 372 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175744
AA Change: L347Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: L347Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 19 231 1.4e-15 PFAM
HOX 267 344 8.74e-9 SMART
low complexity region 382 404 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175905
AA Change: L348Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: L348Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 19 231 1.5e-15 PFAM
HOX 267 344 6.18e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176128
AA Change: L348Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: L348Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 25 227 4.4e-66 PFAM
HOX 267 344 6.18e-9 SMART
low complexity region 373 386 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176386
Predicted Effect probably damaging
Transcript: ENSMUST00000176489
AA Change: L316Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: L316Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 19 231 1.1e-15 PFAM
HOX 267 355 1.89e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176832
AA Change: L347Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: L347Q

DomainStartEndE-ValueType
Pfam:HNF-1_N 19 231 1.4e-15 PFAM
HOX 267 344 8.74e-9 SMART
Predicted Effect unknown
Transcript: ENSMUST00000177326
AA Change: L348Q
Meta Mutation Damage Score 0.7367 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit absence of TERT binding to chromatin as shown by subcellular fractionation analysis of mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 120,360,860 probably benign Het
Abcc5 A T 16: 20,422,438 probably benign Het
Acsl5 A C 19: 55,291,843 D516A probably damaging Het
Adcy1 G A 11: 7,137,400 A425T probably damaging Het
Aebp1 A G 11: 5,868,475 T107A probably benign Het
Arhgef33 T C 17: 80,355,044 S219P probably benign Het
Atm T G 9: 53,511,698 probably benign Het
C1ql2 A C 1: 120,342,537 Y276S probably damaging Het
Cacna2d1 T C 5: 16,322,597 probably null Het
Cmbl A G 15: 31,581,874 N6D probably benign Het
Cntn3 A G 6: 102,242,126 V511A possibly damaging Het
Coq9 C A 8: 94,842,623 R28S probably benign Het
Creld1 T C 6: 113,483,961 F20S probably benign Het
Dcstamp A G 15: 39,760,368 K404E possibly damaging Het
Dip2b T A 15: 100,154,250 I244K probably benign Het
Dnhd1 G A 7: 105,713,031 E3700K probably damaging Het
Dnmt3l T A 10: 78,051,905 C110S probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fgfr1 T G 8: 25,558,143 V172G probably damaging Het
Frem3 C A 8: 80,611,884 Q269K probably benign Het
Frmd6 C A 12: 70,877,168 H67N probably damaging Het
Fry A G 5: 150,418,464 T1532A possibly damaging Het
Git2 G T 5: 114,753,314 S243R probably benign Het
Grid1 A G 14: 35,562,676 probably benign Het
Grp A G 18: 65,879,970 D69G probably damaging Het
Hrasls5 A G 19: 7,613,330 D74G probably benign Het
Hsh2d C T 8: 72,193,592 probably benign Het
Itpr3 G A 17: 27,114,923 S2018N probably benign Het
Kif13b T A 14: 64,714,117 V69D probably benign Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lmcd1 T A 6: 112,310,751 probably benign Het
Megf9 C A 4: 70,534,624 A67S probably benign Het
Myo5b G A 18: 74,625,587 R213H probably damaging Het
Myo5c T A 9: 75,286,448 Y1162N probably damaging Het
Nphs1 A G 7: 30,481,678 probably benign Het
Ntrk1 G A 3: 87,781,542 T568I probably damaging Het
Pcmtd1 A G 1: 7,120,481 H58R probably damaging Het
Plxna4 A T 6: 32,197,156 I1168N possibly damaging Het
Ppm1h A G 10: 122,941,278 D483G probably benign Het
Prdm15 G A 16: 97,808,708 R579C probably damaging Het
Prickle1 T A 15: 93,512,461 R41W probably damaging Het
Rbm19 A G 5: 120,123,016 D235G possibly damaging Het
Smco2 A G 6: 146,871,140 probably benign Het
Sned1 G C 1: 93,280,576 G785R probably damaging Het
Stat4 A G 1: 52,084,129 probably benign Het
Syne2 T A 12: 75,966,524 F2830I probably benign Het
Tbc1d9 A G 8: 83,236,571 D304G possibly damaging Het
Thsd7a G A 6: 12,471,027 probably benign Het
Tmem63b T A 17: 45,666,427 K383N probably benign Het
Trp53rka C A 2: 165,493,041 probably benign Het
Trub1 G A 19: 57,485,131 V207M probably benign Het
Ulk2 A T 11: 61,800,060 C551S possibly damaging Het
Urb1 A T 16: 90,776,318 probably null Het
Vmn1r219 C A 13: 23,163,213 Q191K probably damaging Het
Vmn2r1 A T 3: 64,090,120 D399V probably damaging Het
Vmn2r87 A G 10: 130,476,229 probably benign Het
Wars A T 12: 108,888,365 L41* probably null Het
Washc2 G A 6: 116,224,534 E64K probably damaging Het
Washc4 G A 10: 83,580,330 R828Q probably damaging Het
Wdr59 A T 8: 111,486,944 M313K probably benign Het
Wscd2 G A 5: 113,561,090 probably null Het
Zdhhc20 A C 14: 57,856,678 L176V probably benign Het
Other mutations in Hmbox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03183:Hmbox1 APN 14 64887599 missense probably damaging 1.00
R0962:Hmbox1 UTSW 14 64896774 missense probably benign 0.00
R1467:Hmbox1 UTSW 14 64861578 missense possibly damaging 0.90
R1467:Hmbox1 UTSW 14 64861578 missense possibly damaging 0.90
R1856:Hmbox1 UTSW 14 64828648 missense probably damaging 1.00
R2101:Hmbox1 UTSW 14 64828579 splice site probably benign
R3707:Hmbox1 UTSW 14 64896836 missense probably benign 0.02
R4531:Hmbox1 UTSW 14 64825489 missense probably benign
R4570:Hmbox1 UTSW 14 64823662 missense possibly damaging 0.95
R4572:Hmbox1 UTSW 14 64903233 splice site probably null
R4740:Hmbox1 UTSW 14 64897034 missense probably damaging 1.00
R4807:Hmbox1 UTSW 14 64825549 intron probably benign
R5112:Hmbox1 UTSW 14 64825612 missense probably damaging 1.00
R5327:Hmbox1 UTSW 14 64896695 missense possibly damaging 0.77
R5575:Hmbox1 UTSW 14 64823164 missense probably benign
R5928:Hmbox1 UTSW 14 64823673 missense possibly damaging 0.55
R6934:Hmbox1 UTSW 14 64896832 missense probably benign 0.33
R7155:Hmbox1 UTSW 14 64897037 missense probably damaging 1.00
R7302:Hmbox1 UTSW 14 64828666 missense probably damaging 1.00
R7499:Hmbox1 UTSW 14 64896677 missense possibly damaging 0.76
Predicted Primers
Posted On2014-01-15