Incidental Mutation 'R4805:Shisal1'
ID 370647
Institutional Source Beutler Lab
Gene Symbol Shisal1
Ensembl Gene ENSMUSG00000062760
Gene Name shisa like 1
Synonyms 1810041L15Rik
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 84263404-84331298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84301397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 82 (H82L)
Ref Sequence ENSEMBL: ENSMUSP00000141117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080751] [ENSMUST00000186527] [ENSMUST00000189248] [ENSMUST00000189994]
AlphaFold Q0VBP7
Predicted Effect probably damaging
Transcript: ENSMUST00000080751
AA Change: H62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079575
Gene: ENSMUSG00000062760
AA Change: H62L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186527
Predicted Effect probably damaging
Transcript: ENSMUST00000189248
AA Change: H82L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141117
Gene: ENSMUSG00000062760
AA Change: H82L

DomainStartEndE-ValueType
transmembrane domain 31 50 N/A INTRINSIC
transmembrane domain 119 141 N/A INTRINSIC
low complexity region 172 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189994
AA Change: H62L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140712
Gene: ENSMUSG00000062760
AA Change: H62L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Meta Mutation Damage Score 0.3270 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly damaging Het
Other mutations in Shisal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01887:Shisal1 APN 15 84,290,851 (GRCm39) missense probably damaging 1.00
IGL02381:Shisal1 APN 15 84,290,654 (GRCm39) missense probably damaging 1.00
IGL02826:Shisal1 APN 15 84,304,330 (GRCm39) splice site probably benign
R1604:Shisal1 UTSW 15 84,290,672 (GRCm39) missense probably benign 0.01
R1823:Shisal1 UTSW 15 84,290,669 (GRCm39) missense probably benign 0.00
R2246:Shisal1 UTSW 15 84,301,400 (GRCm39) missense probably damaging 1.00
R3771:Shisal1 UTSW 15 84,290,886 (GRCm39) nonsense probably null
R3772:Shisal1 UTSW 15 84,290,886 (GRCm39) nonsense probably null
R3773:Shisal1 UTSW 15 84,290,886 (GRCm39) nonsense probably null
R5070:Shisal1 UTSW 15 84,304,364 (GRCm39) missense possibly damaging 0.56
R5114:Shisal1 UTSW 15 84,301,427 (GRCm39) missense probably damaging 1.00
R5491:Shisal1 UTSW 15 84,290,711 (GRCm39) missense probably benign 0.00
R7567:Shisal1 UTSW 15 84,290,914 (GRCm39) missense probably benign 0.00
R8715:Shisal1 UTSW 15 84,301,346 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATTACCTCCTTGCATGTGCTG -3'
(R):5'- TGGACCCTGAAGAATTCCTAGG -3'

Sequencing Primer
(F):5'- TGCTGTCTGGAGCATGCC -3'
(R):5'- TGTAGGACCCTGGAGCTG -3'
Posted On 2016-02-04