Incidental Mutation 'R1308:Havcr1'
ID 157861
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 039374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 46630644-46670405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46647097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 177 (T177I)
Ref Sequence ENSEMBL: ENSMUSP00000043827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047568] [ENSMUST00000081819] [ENSMUST00000109223] [ENSMUST00000109224]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047568
AA Change: T177I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: T177I

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 possibly damaging
Transcript: ENSMUST00000081819
AA Change: T177I

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: T177I

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 possibly damaging
Transcript: ENSMUST00000109223
AA Change: T177I

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: T177I

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 benign
Transcript: ENSMUST00000109224
SMART Domains Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405

DomainStartEndE-ValueType
IG 22 128 4.82e-6 SMART
low complexity region 132 152 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Jph1 A G 1: 17,161,918 (GRCm39) I248T probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
Prss47 T C 13: 65,199,630 (GRCm39) H83R probably benign Het
R3hdml G T 2: 163,344,319 (GRCm39) C236F probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tekt2 A T 4: 126,218,711 (GRCm39) L14H probably damaging Het
Tnpo2 T C 8: 85,781,982 (GRCm39) F857S probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A 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
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
R5710:Havcr1 UTSW 11 46,643,353 (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'- AGTCGAAGCTCTTGTCACTTCTTGC -3'
(R):5'- AGTGGCCCTGGTTCTCAGTCATTC -3'

Sequencing Primer
(F):5'- TGCCTGACTCATCCTTGC -3'
(R):5'- TTCATCAGAGAGTCATGCCCAG -3'
Posted On 2014-02-18