Incidental Mutation 'P4717OSA:Hhla1'
ID 44008
Institutional Source Beutler Lab
Gene Symbol Hhla1
Ensembl Gene ENSMUSG00000072511
Gene Name HERV-H LTR-associating 1
Synonyms F930104E18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # P4717OSA (G1) of strain 634
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 65794292-65848653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65795850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 452 (L452P)
Ref Sequence ENSEMBL: ENSMUSP00000098149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100584]
AlphaFold Q3TYV2
Predicted Effect probably damaging
Transcript: ENSMUST00000100584
AA Change: L452P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: L452P

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173338
Meta Mutation Damage Score 0.7464 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 100% (27/27)
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik A T 11: 3,888,178 (GRCm39) probably null Het
Acsm5 A T 7: 119,131,195 (GRCm39) E204D probably benign Het
Ahi1 G C 10: 20,848,009 (GRCm39) R472S probably damaging Het
Bbof1 G A 12: 84,473,734 (GRCm39) A355T probably damaging Het
Capn10 G T 1: 92,867,116 (GRCm39) Q115H probably damaging Het
Clec4n A C 6: 123,221,499 (GRCm39) Q114H probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Depdc1a T C 3: 159,228,184 (GRCm39) V312A probably damaging Het
Gbp2 T C 3: 142,336,357 (GRCm39) F236L possibly damaging Het
Glb1l2 A G 9: 26,677,317 (GRCm39) I527T probably damaging Het
Mcoln3 T G 3: 145,830,504 (GRCm39) V78G probably damaging Het
Mylk T A 16: 34,797,483 (GRCm39) probably benign Het
Nxpe2 T A 9: 48,237,677 (GRCm39) M193L probably benign Het
Olig1 A T 16: 91,066,877 (GRCm39) Y38F probably damaging Het
Pkhd1l1 T C 15: 44,386,895 (GRCm39) V1256A probably benign Het
Pkhd1l1 A T 15: 44,391,643 (GRCm39) I1570F probably damaging Het
Prss12 T C 3: 123,241,267 (GRCm39) Y154H probably damaging Het
Rbp3 A G 14: 33,677,456 (GRCm39) D468G probably damaging Het
Relt G A 7: 100,496,788 (GRCm39) R360C probably damaging Het
Tmed4 T C 11: 6,223,727 (GRCm39) probably benign Het
Trhr C A 15: 44,060,831 (GRCm39) T117K probably damaging Het
Ube2e2 A G 14: 18,630,297 (GRCm38) probably null Het
Other mutations in Hhla1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Hhla1 APN 15 65,813,810 (GRCm39) missense probably damaging 1.00
IGL02531:Hhla1 APN 15 65,839,256 (GRCm39) splice site probably benign
IGL02609:Hhla1 APN 15 65,802,463 (GRCm39) splice site probably benign
IGL02948:Hhla1 APN 15 65,814,542 (GRCm39) missense probably damaging 1.00
IGL03063:Hhla1 APN 15 65,813,639 (GRCm39) missense probably damaging 1.00
IGL03411:Hhla1 APN 15 65,802,078 (GRCm39) critical splice donor site probably null
Encroachment UTSW 15 65,820,334 (GRCm39) missense probably damaging 1.00
trespass UTSW 15 65,808,231 (GRCm39) nonsense probably null
R0277:Hhla1 UTSW 15 65,820,352 (GRCm39) missense probably benign 0.01
R0323:Hhla1 UTSW 15 65,820,352 (GRCm39) missense probably benign 0.01
R0492:Hhla1 UTSW 15 65,808,140 (GRCm39) missense probably benign
R1546:Hhla1 UTSW 15 65,805,176 (GRCm39) missense probably benign 0.10
R2039:Hhla1 UTSW 15 65,808,226 (GRCm39) missense possibly damaging 0.75
R2112:Hhla1 UTSW 15 65,808,232 (GRCm39) missense probably benign 0.00
R2405:Hhla1 UTSW 15 65,808,160 (GRCm39) nonsense probably null
R4804:Hhla1 UTSW 15 65,794,948 (GRCm39) missense probably benign 0.01
R5512:Hhla1 UTSW 15 65,795,865 (GRCm39) missense probably benign 0.00
R5651:Hhla1 UTSW 15 65,813,663 (GRCm39) missense probably damaging 1.00
R6012:Hhla1 UTSW 15 65,820,339 (GRCm39) missense probably damaging 1.00
R6237:Hhla1 UTSW 15 65,813,646 (GRCm39) missense probably damaging 1.00
R6837:Hhla1 UTSW 15 65,820,334 (GRCm39) missense probably damaging 1.00
R7506:Hhla1 UTSW 15 65,808,231 (GRCm39) nonsense probably null
R7657:Hhla1 UTSW 15 65,837,308 (GRCm39) missense probably damaging 0.99
R8461:Hhla1 UTSW 15 65,795,723 (GRCm39) missense probably benign 0.00
R9137:Hhla1 UTSW 15 65,795,761 (GRCm39) missense probably damaging 0.98
R9434:Hhla1 UTSW 15 65,839,226 (GRCm39) missense possibly damaging 0.55
R9663:Hhla1 UTSW 15 65,813,630 (GRCm39) missense probably damaging 1.00
Z1177:Hhla1 UTSW 15 65,813,624 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGGGAGTCACTGTCCCAGGTTAC -3'
(R):5'- GTATGCTCCTCAGAGAACTCATGCC -3'

Sequencing Primer
(F):5'- AGGTTACCTTATGGCTTCTGAAC -3'
(R):5'- TCAGAGAACTCATGCCTGGTC -3'
Posted On 2013-05-31