Incidental Mutation 'R3757:Havcr1'
ID 271486
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3757 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 46630644-46670405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46643407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 109 (R109L)
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: R109L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: R109L

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: R109L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: R109L

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: R109L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: R109L

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: R109L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405
AA Change: R109L

DomainStartEndE-ValueType
IG 22 128 4.82e-6 SMART
low complexity region 132 152 N/A INTRINSIC
Meta Mutation Damage Score 0.6162 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 81,986,415 (GRCm39) I9K probably benign Het
Arhgap31 T C 16: 38,457,362 (GRCm39) E82G probably damaging Het
Asap2 T A 12: 21,317,767 (GRCm39) S993T probably damaging Het
Bmpr1a A T 14: 34,156,624 (GRCm39) L134* probably null Het
Cacna1e A G 1: 154,509,442 (GRCm39) V271A probably damaging Het
Cacna2d4 A G 6: 119,218,124 (GRCm39) E153G probably damaging Het
Cage1 A C 13: 38,209,705 (GRCm39) F91V possibly damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Col9a1 T C 1: 24,271,312 (GRCm39) probably null Het
Cts6 A T 13: 61,349,972 (GRCm39) Y36* probably null Het
Dennd3 C G 15: 73,394,083 (GRCm39) A36G probably benign Het
Dmxl1 G A 18: 50,068,384 (GRCm39) G2719D probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ep300 T A 15: 81,532,790 (GRCm39) V1676E unknown Het
Ercc4 C T 16: 12,962,360 (GRCm39) T668M probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10985 GCTCTCTCTCTCTCTCTCTCTCTCTCTCT GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 3: 53,752,645 (GRCm39) probably null Het
H1f4 T A 13: 23,806,240 (GRCm39) K81* probably null Het
Krtap4-9 A G 11: 99,676,444 (GRCm39) probably benign Het
Layn T C 9: 50,970,856 (GRCm39) E229G probably benign Het
Lpcat3 T A 6: 124,676,955 (GRCm39) probably null Het
Lrrn1 T A 6: 107,546,169 (GRCm39) F656I possibly damaging Het
Lypd1 A G 1: 125,838,121 (GRCm39) probably benign Het
Or4k41 T A 2: 111,279,602 (GRCm39) V39E possibly damaging Het
Or5v1b T A 17: 37,841,246 (GRCm39) I126N probably damaging Het
Or6c207 T C 10: 129,104,934 (GRCm39) D86G probably damaging Het
Ptprt A T 2: 161,653,950 (GRCm39) L560Q probably damaging Het
Rbm11 T C 16: 75,393,469 (GRCm39) V55A probably damaging Het
Scn11a C T 9: 119,632,569 (GRCm39) V434I probably benign Het
Serpinc1 A G 1: 160,829,935 (GRCm39) T434A probably benign Het
Setd2 T C 9: 110,402,753 (GRCm39) I1798T probably damaging Het
Sfswap A G 5: 129,590,298 (GRCm39) Y265C probably damaging Het
Slc9a8 C A 2: 167,266,050 (GRCm39) T9K probably benign Het
Synpo T C 18: 60,736,062 (GRCm39) D389G probably damaging Het
Vmn1r181 C T 7: 23,683,909 (GRCm39) L125F possibly damaging Het
Wdfy4 A C 14: 32,745,331 (GRCm39) H2296Q probably benign 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
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'- TCGTGGAATCACAACGACATG -3'
(R):5'- GCCACAAGATACATGAGATTATGTC -3'

Sequencing Primer
(F):5'- AACGACATGTTGGGGCC -3'
(R):5'- AAGCAAGTGTTTAATCATCAACATG -3'
Posted On 2015-03-18