Incidental Mutation 'R5491:Shisal1'
ID 432096
Institutional Source Beutler Lab
Gene Symbol Shisal1
Ensembl Gene ENSMUSG00000062760
Gene Name shisa like 1
Synonyms 1810041L15Rik
MMRRC Submission 043052-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5491 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84263404-84331298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84290711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 199 (V199L)
Ref Sequence ENSEMBL: ENSMUSP00000141117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080751] [ENSMUST00000189248] [ENSMUST00000189994]
AlphaFold Q0VBP7
Predicted Effect probably benign
Transcript: ENSMUST00000080751
AA Change: V179L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079575
Gene: ENSMUSG00000062760
AA Change: V179L

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: ENSMUST00000189248
AA Change: V199L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141117
Gene: ENSMUSG00000062760
AA Change: V199L

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 benign
Transcript: ENSMUST00000189994
SMART Domains Protein: ENSMUSP00000140712
Gene: ENSMUSG00000062760

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.0%
  • 20x: 89.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,462 (GRCm39) A182S possibly damaging Het
Aldh1l2 A T 10: 83,358,649 (GRCm39) D2E probably benign Het
Bach2 G T 4: 32,562,681 (GRCm39) D383Y probably damaging Het
Cd248 T C 19: 5,120,237 (GRCm39) L695P probably damaging Het
Cela1 T A 15: 100,580,861 (GRCm39) N132Y probably damaging Het
Cisd2 A T 3: 135,114,601 (GRCm39) D123E probably damaging Het
Col6a6 T A 9: 105,615,435 (GRCm39) D1571V probably damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fbxo48 C T 11: 16,904,280 (GRCm39) T144M probably damaging Het
Fbxo7 C A 10: 85,883,890 (GRCm39) P497Q probably damaging Het
Garin5b T C 7: 4,760,925 (GRCm39) I596V probably benign Het
Gm12695 T A 4: 96,657,905 (GRCm39) H88L possibly damaging Het
Gpat4 A G 8: 23,670,680 (GRCm39) I133T probably benign Het
Hmcn1 C T 1: 150,485,576 (GRCm39) probably null Het
Ncaph T C 2: 126,965,595 (GRCm39) T252A probably benign Het
Nebl G T 2: 17,439,783 (GRCm39) Y163* probably null Het
Neurod4 C T 10: 130,106,936 (GRCm39) V113I possibly damaging Het
Or13j1 A G 4: 43,705,990 (GRCm39) S193P probably damaging Het
Or3a1d A T 11: 74,237,740 (GRCm39) H103Q probably benign Het
Or4f56 T A 2: 111,703,907 (GRCm39) I98F probably benign Het
Pbxip1 T A 3: 89,350,466 (GRCm39) M37K probably benign Het
Phactr2 T C 10: 13,137,590 (GRCm39) N184S possibly damaging Het
Phf20l1 C T 15: 66,487,634 (GRCm39) P480L possibly damaging Het
Psme4 T C 11: 30,765,246 (GRCm39) S538P possibly damaging Het
Rassf1 T A 9: 107,438,614 (GRCm39) M228K possibly damaging Het
Rpn2 A G 2: 157,139,303 (GRCm39) D231G probably damaging Het
She A T 3: 89,739,097 (GRCm39) D96V probably damaging Het
Tmem260 T A 14: 48,749,627 (GRCm39) probably null Het
Ttn T A 2: 76,562,702 (GRCm39) I28751F probably damaging Het
Zfp60 T G 7: 27,447,940 (GRCm39) probably null 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
R4805:Shisal1 UTSW 15 84,301,397 (GRCm39) missense probably damaging 1.00
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
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'- TTAAGTCCTCCTTGGCGAAC -3'
(R):5'- GATTTACGGCTTCTTCGTGC -3'

Sequencing Primer
(F):5'- TCCTCCTTGGCGAACAGGAAG -3'
(R):5'- CTATTATTCCGCCATGAACTACG -3'
Posted On 2016-10-05