Incidental Mutation 'R3746:Gm37240'
ID 309794
Institutional Source Beutler Lab
Gene Symbol Gm37240
Ensembl Gene ENSMUSG00000102805
Gene Name predicted gene, 37240
Synonyms
MMRRC Submission 040732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R3746 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 84403733-85794825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84426919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 168 (N168T)
Ref Sequence ENSEMBL: ENSMUSP00000122964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098990] [ENSMUST00000107687] [ENSMUST00000143514] [ENSMUST00000154148]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098990
AA Change: N136T

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096588
Gene: ENSMUSG00000074513
AA Change: N136T

DomainStartEndE-ValueType
Blast:Arfaptin 1 32 9e-10 BLAST
Arfaptin 89 316 2.08e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107687
AA Change: N161T

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103315
Gene: ENSMUSG00000074513
AA Change: N161T

DomainStartEndE-ValueType
Blast:Arfaptin 1 32 1e-9 BLAST
Arfaptin 114 341 2.08e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143514
AA Change: N168T

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122964
Gene: ENSMUSG00000074513
AA Change: N168T

DomainStartEndE-ValueType
Blast:Arfaptin 1 32 1e-9 BLAST
Arfaptin 121 348 2.08e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154148
AA Change: N47T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
AA Change: N47T

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Meta Mutation Damage Score 0.1257 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abcb5 T C 12: 118,838,355 (GRCm39) D1069G probably damaging Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Ccdc40 T C 11: 119,155,252 (GRCm39) V1164A probably benign Het
Chd7 G A 4: 8,752,537 (GRCm39) V345M probably damaging Het
Cln6 A G 9: 62,754,284 (GRCm39) I109V probably benign Het
Csmd3 A T 15: 47,713,162 (GRCm39) F1604Y probably benign Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Dip2c A T 13: 9,651,509 (GRCm39) D674V probably damaging Het
Dnah17 T C 11: 117,973,742 (GRCm39) S1935G probably benign Het
Eif3g G A 9: 20,805,993 (GRCm39) R295C probably benign Het
Epha5 T C 5: 84,206,963 (GRCm39) K998E probably damaging Het
Fam171b A T 2: 83,709,944 (GRCm39) T539S probably damaging Het
Fer1l4 G T 2: 155,876,968 (GRCm39) H1159N probably benign Het
Fsip1 A G 2: 118,063,531 (GRCm39) C313R probably damaging Het
Gm7589 T C 9: 59,053,138 (GRCm39) noncoding transcript Het
Igkv20-101-2 A T 6: 68,451,942 (GRCm39) I66L possibly damaging Het
Irf3 T C 7: 44,648,297 (GRCm39) F54S probably damaging Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Lrp10 A T 14: 54,706,723 (GRCm39) N520I possibly damaging Het
Map3k21 A G 8: 126,661,839 (GRCm39) K479E probably damaging Het
Mpdz A C 4: 81,281,384 (GRCm39) V609G probably damaging Het
Opcml G A 9: 28,812,826 (GRCm39) V173M possibly damaging Het
Or51b6 T A 7: 103,556,267 (GRCm39) M207K probably benign Het
Osbpl7 T C 11: 96,946,879 (GRCm39) V223A probably damaging Het
Pcdh17 A T 14: 84,770,477 (GRCm39) Y985F probably benign Het
Piezo1 G T 8: 123,219,377 (GRCm39) F1084L probably damaging Het
Pkhd1 A G 1: 20,128,524 (GRCm39) *4060Q probably null Het
Plekhn1 T C 4: 156,310,051 (GRCm39) T88A probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Rmdn2 T A 17: 79,977,981 (GRCm39) probably null Het
Selenom A G 11: 3,467,132 (GRCm39) E137G probably benign Het
Slc38a7 A G 8: 96,570,380 (GRCm39) probably benign Het
Slc39a12 T C 2: 14,400,878 (GRCm39) probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Supt16 A G 14: 52,417,596 (GRCm39) L306P probably damaging Het
Tas2r136 A T 6: 132,754,200 (GRCm39) F309Y probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trim63 G A 4: 134,042,665 (GRCm39) C44Y probably damaging Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r4 A G 6: 56,934,116 (GRCm39) R207G probably damaging Het
Vmn2r76 A G 7: 85,874,763 (GRCm39) V738A probably benign Het
Vwa5b2 A G 16: 20,417,076 (GRCm39) probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Other mutations in Gm37240
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1236:Gm37240 UTSW 3 84,435,003 (GRCm39) missense probably benign 0.04
R1494:Gm37240 UTSW 3 84,434,998 (GRCm39) missense probably damaging 0.99
R5362:Gm37240 UTSW 3 84,423,000 (GRCm39) missense probably damaging 1.00
R5653:Gm37240 UTSW 3 84,405,102 (GRCm39) missense probably damaging 0.98
R5870:Gm37240 UTSW 3 84,597,828 (GRCm39) intron probably benign
R5913:Gm37240 UTSW 3 84,874,905 (GRCm39) intron probably benign
R6163:Gm37240 UTSW 3 84,423,092 (GRCm39) missense probably damaging 1.00
R7210:Gm37240 UTSW 3 84,405,114 (GRCm39) missense probably benign 0.02
R7378:Gm37240 UTSW 3 84,879,944 (GRCm39) splice site probably null
R7769:Gm37240 UTSW 3 84,417,232 (GRCm39) missense possibly damaging 0.81
R8748:Gm37240 UTSW 3 84,405,045 (GRCm39) makesense probably null
R9019:Gm37240 UTSW 3 84,426,946 (GRCm39) missense probably damaging 1.00
R9164:Gm37240 UTSW 3 84,417,248 (GRCm39) missense possibly damaging 0.95
R9542:Gm37240 UTSW 3 84,417,196 (GRCm39) missense probably benign
R9666:Gm37240 UTSW 3 84,422,952 (GRCm39) missense probably damaging 1.00
R9739:Gm37240 UTSW 3 84,417,113 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACCAATGGTCACTGGGTTCAG -3'
(R):5'- AAAACTAGCTGGGCAGTGC -3'

Sequencing Primer
(F):5'- GTCAATCTTACTAAGAGTTTAGCCC -3'
(R):5'- CGCAGGGTGGTATTTTGCATTG -3'
Posted On 2015-04-17