Incidental Mutation 'R1081:Shtn1'
ID 152728
Institutional Source Beutler Lab
Gene Symbol Shtn1
Ensembl Gene ENSMUSG00000041362
Gene Name shootin 1
Synonyms shootin1, 4930506M07Rik
MMRRC Submission 039167-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1081 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 58961788-59064532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58963447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 623 (T623S)
Ref Sequence ENSEMBL: ENSMUSP00000041378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047511] [ENSMUST00000054280] [ENSMUST00000163821] [ENSMUST00000200910] [ENSMUST00000202382]
AlphaFold Q8K2Q9
Predicted Effect probably benign
Transcript: ENSMUST00000047511
AA Change: T623S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: T623S

DomainStartEndE-ValueType
coiled coil region 7 59 N/A INTRINSIC
low complexity region 120 132 N/A INTRINSIC
coiled coil region 137 233 N/A INTRINSIC
coiled coil region 259 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054280
SMART Domains Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029

DomainStartEndE-ValueType
Blast:Enolase_C 29 55 6e-8 BLAST
Enolase_N 69 264 1.06e-20 SMART
Enolase_C 276 585 7.85e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163821
SMART Domains Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362

DomainStartEndE-ValueType
internal_repeat_1 59 77 1.42e-6 PROSPERO
low complexity region 120 132 N/A INTRINSIC
internal_repeat_1 207 225 1.42e-6 PROSPERO
coiled coil region 259 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200910
SMART Domains Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029

DomainStartEndE-ValueType
Blast:Enolase_C 29 55 6e-8 BLAST
Enolase_N 68 263 1.06e-20 SMART
Enolase_C 275 584 7.85e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201123
Predicted Effect probably benign
Transcript: ENSMUST00000202382
SMART Domains Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029

DomainStartEndE-ValueType
Blast:Enolase_N 1 88 1e-22 BLAST
Enolase_C 100 409 2.1e-45 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,002 (GRCm39) E309G probably benign Het
Abr T C 11: 76,346,441 (GRCm39) K448E probably damaging Het
Atxn2l T C 7: 126,093,384 (GRCm39) Y785C probably damaging Het
Atxn3 T G 12: 101,900,608 (GRCm39) D225A probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cntnap5c A G 17: 58,612,520 (GRCm39) D853G possibly damaging Het
Dnah9 A G 11: 65,975,703 (GRCm39) Y1449H probably damaging Het
Dsc2 T G 18: 20,166,352 (GRCm39) T760P probably damaging Het
Dync2h1 A T 9: 7,005,488 (GRCm39) probably null Het
Epg5 T C 18: 78,002,748 (GRCm39) F611L possibly damaging Het
Fat3 T C 9: 16,286,580 (GRCm39) D981G possibly damaging Het
Gimap3 A T 6: 48,742,086 (GRCm39) C281* probably null Het
Ids T C X: 69,404,716 (GRCm39) D149G possibly damaging Het
Inpp4b A G 8: 82,795,653 (GRCm39) I826V probably damaging Het
Kcnrg C A 14: 61,845,163 (GRCm39) H68N possibly damaging Het
Klra6 A G 6: 129,999,588 (GRCm39) Y127H probably damaging Het
Lypd10 T C 7: 24,412,967 (GRCm39) probably null Het
Mepce A G 5: 137,782,958 (GRCm39) L456P probably damaging Het
Mink1 T C 11: 70,497,861 (GRCm39) L488P probably benign Het
Mndal T A 1: 173,687,788 (GRCm39) E482V probably benign Het
Mob1b G A 5: 88,901,021 (GRCm39) V143I probably benign Het
Msh4 T C 3: 153,577,995 (GRCm39) E433G probably benign Het
Myof A T 19: 37,974,536 (GRCm39) I201N probably damaging Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ntsr1 G A 2: 180,180,549 (GRCm39) S285N probably benign Het
Or2ak6 C T 11: 58,593,324 (GRCm39) H266Y probably damaging Het
Or4k2 A G 14: 50,424,654 (GRCm39) S7P probably damaging Het
Or51b4 T A 7: 103,531,384 (GRCm39) H22L possibly damaging Het
Or52ab7 A G 7: 102,978,245 (GRCm39) Y184C probably damaging Het
P2rx4 A G 5: 122,865,296 (GRCm39) E307G probably damaging Het
Pcdh15 A G 10: 74,286,145 (GRCm39) D793G probably damaging Het
Rpap1 G A 2: 119,601,750 (GRCm39) R737W probably damaging Het
Rpusd4 A G 9: 35,186,384 (GRCm39) K307E probably benign Het
Sntg1 A G 1: 8,515,343 (GRCm39) C397R possibly damaging Het
Stat5a T C 11: 100,771,886 (GRCm39) F646S probably damaging Het
Tacc2 A G 7: 130,330,304 (GRCm39) E196G possibly damaging Het
Tcf25 T C 8: 124,108,212 (GRCm39) V89A probably benign Het
Trim7 G T 11: 48,740,532 (GRCm39) V210L probably damaging Het
Vmn2r57 A G 7: 41,077,635 (GRCm39) M177T possibly damaging Het
Wwc2 G A 8: 48,281,799 (GRCm39) probably benign Het
Zfp28 A G 7: 6,392,779 (GRCm39) I152V possibly damaging Het
Zfp628 A G 7: 4,923,182 (GRCm39) H468R probably damaging Het
Zfp770 A G 2: 114,027,608 (GRCm39) Y154H probably damaging Het
Other mutations in Shtn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Shtn1 APN 19 59,007,384 (GRCm39) missense possibly damaging 0.56
IGL01619:Shtn1 APN 19 59,016,601 (GRCm39) missense probably damaging 0.99
IGL01880:Shtn1 APN 19 59,063,881 (GRCm39) splice site probably benign
IGL02214:Shtn1 APN 19 58,988,318 (GRCm39) splice site probably benign
IGL03400:Shtn1 APN 19 59,020,690 (GRCm39) splice site probably benign
R0011:Shtn1 UTSW 19 59,020,650 (GRCm39) missense possibly damaging 0.72
R0011:Shtn1 UTSW 19 59,020,650 (GRCm39) missense possibly damaging 0.72
R0299:Shtn1 UTSW 19 59,007,383 (GRCm39) missense probably benign 0.00
R0606:Shtn1 UTSW 19 58,988,372 (GRCm39) missense probably damaging 0.99
R1212:Shtn1 UTSW 19 59,039,322 (GRCm39) missense probably damaging 1.00
R1677:Shtn1 UTSW 19 58,998,222 (GRCm39) missense probably damaging 1.00
R1791:Shtn1 UTSW 19 59,020,632 (GRCm39) missense probably damaging 0.99
R1966:Shtn1 UTSW 19 58,963,470 (GRCm39) missense probably benign
R3076:Shtn1 UTSW 19 58,983,518 (GRCm39) missense probably damaging 1.00
R3552:Shtn1 UTSW 19 58,963,470 (GRCm39) missense probably benign 0.28
R3736:Shtn1 UTSW 19 59,010,700 (GRCm39) missense probably benign
R4615:Shtn1 UTSW 19 59,010,648 (GRCm39) missense probably benign 0.18
R4789:Shtn1 UTSW 19 59,039,305 (GRCm39) missense probably damaging 0.99
R4791:Shtn1 UTSW 19 59,039,305 (GRCm39) missense probably damaging 0.99
R4792:Shtn1 UTSW 19 59,039,305 (GRCm39) missense probably damaging 0.99
R4939:Shtn1 UTSW 19 59,010,633 (GRCm39) missense probably benign 0.00
R5245:Shtn1 UTSW 19 59,020,652 (GRCm39) missense possibly damaging 0.90
R5387:Shtn1 UTSW 19 59,026,801 (GRCm39) missense probably damaging 1.00
R5813:Shtn1 UTSW 19 59,020,673 (GRCm39) missense probably damaging 1.00
R6013:Shtn1 UTSW 19 58,963,533 (GRCm39) missense probably damaging 1.00
R6374:Shtn1 UTSW 19 59,026,728 (GRCm39) missense possibly damaging 0.94
R7030:Shtn1 UTSW 19 58,998,266 (GRCm39) missense possibly damaging 0.74
R7143:Shtn1 UTSW 19 59,007,338 (GRCm39) missense probably damaging 0.99
R7487:Shtn1 UTSW 19 58,992,292 (GRCm39) missense probably damaging 0.99
R7496:Shtn1 UTSW 19 59,016,616 (GRCm39) missense probably damaging 1.00
R7889:Shtn1 UTSW 19 58,992,328 (GRCm39) missense probably damaging 0.99
R8209:Shtn1 UTSW 19 58,992,328 (GRCm39) missense possibly damaging 0.86
R8226:Shtn1 UTSW 19 58,992,328 (GRCm39) missense possibly damaging 0.86
R8290:Shtn1 UTSW 19 58,988,326 (GRCm39) missense probably damaging 1.00
R8857:Shtn1 UTSW 19 58,978,800 (GRCm39) missense probably damaging 1.00
R9289:Shtn1 UTSW 19 58,998,257 (GRCm39) missense probably damaging 0.99
R9496:Shtn1 UTSW 19 58,963,457 (GRCm39) missense probably damaging 1.00
R9598:Shtn1 UTSW 19 59,026,735 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGATACCAGCAAAGAAGTGTGTGGC -3'
(R):5'- TCAAATGGCTGGCATCCCAAAGAC -3'

Sequencing Primer
(F):5'- GCCAGAACAAAGGAATGTCC -3'
(R):5'- GCCTCCCAGTAAAGGTGGATAC -3'
Posted On 2014-01-29