Incidental Mutation 'R5710:Havcr1'
ID 452179
Institutional Source Beutler Lab
Gene Symbol Havcr1
Ensembl Gene ENSMUSG00000040405
Gene Name hepatitis A virus cellular receptor 1
Synonyms Timd1, Tim1, TIM-1, KIM-1
MMRRC Submission 044396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5710 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 46630644-46670405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46643353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
Ref Sequence ENSEMBL: ENSMUSP00000104847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047568] [ENSMUST00000081819] [ENSMUST00000109223] [ENSMUST00000109224]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000047568
AA Change: V91A

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: V91A

DomainStartEndE-ValueType
IG 22 128 4.82e-6 SMART
low complexity region 132 152 N/A INTRINSIC
low complexity region 154 177 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081819
AA Change: V91A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: V91A

DomainStartEndE-ValueType
IG 22 128 4.82e-6 SMART
low complexity region 132 152 N/A INTRINSIC
low complexity region 154 177 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109223
AA Change: V91A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: V91A

DomainStartEndE-ValueType
IG 22 128 4.82e-6 SMART
low complexity region 132 152 N/A INTRINSIC
low complexity region 154 177 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109224
AA Change: V91A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405
AA Change: V91A

DomainStartEndE-ValueType
IG 22 128 4.82e-6 SMART
low complexity region 132 152 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 G A 14: 68,847,357 (GRCm39) H713Y probably damaging Het
Adam39 A T 8: 41,277,684 (GRCm39) Y25F probably benign Het
Ankfn1 T C 11: 89,394,751 (GRCm39) N278S probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap18 G A 10: 26,736,729 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,081,732 (GRCm39) Q107P probably benign Het
Btbd9 A G 17: 30,447,842 (GRCm39) S525P probably benign Het
Cabin1 A G 10: 75,482,852 (GRCm39) S2093P probably benign Het
Ccnd1 T C 7: 144,491,781 (GRCm39) D86G possibly damaging Het
Chdh C A 14: 29,756,584 (GRCm39) Q337K probably damaging Het
Cldn9 T C 17: 23,902,421 (GRCm39) D68G probably damaging Het
Cpt1b T A 15: 89,309,409 (GRCm39) K41N probably damaging Het
Dsg1c T C 18: 20,405,408 (GRCm39) Y274H probably benign Het
Eif2ak3 T A 6: 70,860,717 (GRCm39) I431N probably damaging Het
Erbb2 T A 11: 98,317,906 (GRCm39) W416R probably damaging Het
Fgd3 T A 13: 49,450,205 (GRCm39) I15F probably benign Het
Fkbp14 T A 6: 54,566,255 (GRCm39) probably null Het
Kmt2d T C 15: 98,751,987 (GRCm39) probably benign Het
Lipc T A 9: 70,719,979 (GRCm39) I343F probably benign Het
Madd T C 2: 90,984,821 (GRCm39) T1331A probably damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mdga2 C A 12: 66,553,556 (GRCm39) L98F probably damaging Het
Micall1 C A 15: 79,011,290 (GRCm39) H553Q probably damaging Het
Mxd4 A G 5: 34,344,671 (GRCm39) probably null Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Prtg T A 9: 72,716,922 (GRCm39) Y88N probably damaging Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Sclt1 C A 3: 41,618,398 (GRCm39) E14* probably null Het
Shfl G T 9: 20,784,192 (GRCm39) R138L possibly damaging Het
Strn G A 17: 78,995,028 (GRCm39) L162F probably damaging Het
T T C 17: 8,660,474 (GRCm39) S221P probably benign Het
Tbl1xr1 A G 3: 22,264,578 (GRCm39) D511G probably damaging Het
Ttc7 A C 17: 87,597,674 (GRCm39) N82T probably damaging Het
Ttn C T 2: 76,747,786 (GRCm39) R4421H possibly damaging Het
Uaca T A 9: 60,779,093 (GRCm39) L1158Q probably damaging Het
Vdr T C 15: 97,757,008 (GRCm39) Y288C probably damaging Het
Vdr A T 15: 97,765,089 (GRCm39) S217T probably benign Het
Zhx2 T A 15: 57,684,866 (GRCm39) Y78* probably null Het
Znhit1 C T 5: 137,011,456 (GRCm39) C119Y probably damaging Het
Other mutations in Havcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02119:Havcr1 APN 11 46,666,320 (GRCm39) missense probably damaging 1.00
IGL02207:Havcr1 APN 11 46,669,403 (GRCm39) missense probably benign 0.28
R0355:Havcr1 UTSW 11 46,647,051 (GRCm39) missense possibly damaging 0.91
R0371:Havcr1 UTSW 11 46,643,416 (GRCm39) missense possibly damaging 0.95
R0488:Havcr1 UTSW 11 46,643,398 (GRCm39) missense probably damaging 1.00
R0883:Havcr1 UTSW 11 46,643,259 (GRCm39) missense probably damaging 1.00
R1307:Havcr1 UTSW 11 46,647,097 (GRCm39) missense probably damaging 0.99
R1308:Havcr1 UTSW 11 46,647,097 (GRCm39) missense probably damaging 0.99
R1554:Havcr1 UTSW 11 46,643,334 (GRCm39) missense probably benign
R1908:Havcr1 UTSW 11 46,664,511 (GRCm39) nonsense probably null
R2165:Havcr1 UTSW 11 46,669,379 (GRCm39) missense probably benign 0.14
R3085:Havcr1 UTSW 11 46,647,052 (GRCm39) missense probably damaging 0.99
R3757:Havcr1 UTSW 11 46,643,407 (GRCm39) missense probably damaging 1.00
R4719:Havcr1 UTSW 11 46,643,268 (GRCm39) missense probably benign 0.02
R5191:Havcr1 UTSW 11 46,647,024 (GRCm39) missense probably benign 0.40
R5440:Havcr1 UTSW 11 46,643,197 (GRCm39) missense probably damaging 1.00
R5988:Havcr1 UTSW 11 46,646,964 (GRCm39) missense probably damaging 1.00
R7570:Havcr1 UTSW 11 46,661,369 (GRCm39) critical splice donor site probably null
R7962:Havcr1 UTSW 11 46,643,402 (GRCm39) nonsense probably null
R8953:Havcr1 UTSW 11 46,647,006 (GRCm39) missense possibly damaging 0.91
R9259:Havcr1 UTSW 11 46,661,318 (GRCm39) missense probably damaging 1.00
R9424:Havcr1 UTSW 11 46,669,391 (GRCm39) missense probably benign
R9576:Havcr1 UTSW 11 46,669,391 (GRCm39) missense probably benign
Z1177:Havcr1 UTSW 11 46,666,325 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ACAGGCGCTGTGGATTCTTATG -3'
(R):5'- AGACCTTCAGTTTCCTTGTCATAGG -3'

Sequencing Primer
(F):5'- TGGGTCACCCTGTCACAC -3'
(R):5'- TCAAATTATTAGCAAACAAAAGACCC -3'
Posted On 2017-01-03