Incidental Mutation 'IGL02227:Srrt'
ID 285586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srrt
Ensembl Gene ENSMUSG00000037364
Gene Name serrate RNA effector molecule homolog (Arabidopsis)
Synonyms Asr2, Ars2, 2810019G02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02227
Quality Score
Status
Chromosome 5
Chromosomal Location 137293966-137305936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137294536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 790 (T790M)
Ref Sequence ENSEMBL: ENSMUSP00000143232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000196109] [ENSMUST00000199243] [ENSMUST00000197466] [ENSMUST00000196208] [ENSMUST00000198526]
AlphaFold Q99MR6
Predicted Effect probably benign
Transcript: ENSMUST00000024099
SMART Domains Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328

DomainStartEndE-ValueType
Pfam:COesterase 14 563 2e-186 PFAM
Pfam:Abhydrolase_3 146 276 7.5e-9 PFAM
Pfam:AChE_tetra 578 614 3.2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000040873
AA Change: T790M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: T790M

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 153 262 3.8e-44 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 645 850 9.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052825
SMART Domains Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502

DomainStartEndE-ValueType
Pfam:Peptidase_C78 27 212 5.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085934
SMART Domains Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328

DomainStartEndE-ValueType
Pfam:COesterase 15 563 3e-178 PFAM
Pfam:Abhydrolase_3 146 260 1.4e-7 PFAM
Pfam:AChE_tetra 578 613 3.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184134
Predicted Effect probably damaging
Transcript: ENSMUST00000196109
AA Change: T432M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364
AA Change: T432M

DomainStartEndE-ValueType
coiled coil region 11 46 N/A INTRINSIC
Blast:RRM 65 133 2e-15 BLAST
low complexity region 208 237 N/A INTRINSIC
low complexity region 245 257 N/A INTRINSIC
Pfam:ARS2 277 498 6.5e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199243
AA Change: T790M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: T790M

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 9.5e-48 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 635 849 9.8e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197466
AA Change: T786M

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: T786M

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 9.5e-48 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 635 845 5.5e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196576
Predicted Effect probably benign
Transcript: ENSMUST00000196208
SMART Domains Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328

DomainStartEndE-ValueType
Pfam:COesterase 14 359 6.5e-134 PFAM
Pfam:Abhydrolase_3 146 284 4.1e-7 PFAM
Pfam:COesterase 355 475 1.5e-25 PFAM
Pfam:AChE_tetra 490 526 2.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198526
SMART Domains Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 2e-45 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 369 408 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000199756
AA Change: T208M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200643
Predicted Effect probably benign
Transcript: ENSMUST00000199365
Predicted Effect probably benign
Transcript: ENSMUST00000199605
Predicted Effect probably benign
Transcript: ENSMUST00000223263
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,987,402 (GRCm39) E662G probably benign Het
Acss3 A G 10: 106,881,196 (GRCm39) S262P probably benign Het
Agap1 T C 1: 89,591,497 (GRCm39) V263A probably damaging Het
Ap3b2 A G 7: 81,123,152 (GRCm39) L454P probably damaging Het
Arrdc1 A T 2: 24,816,164 (GRCm39) F280I possibly damaging Het
Atp8b1 G T 18: 64,695,261 (GRCm39) H485N probably benign Het
Atrip A G 9: 108,890,732 (GRCm39) S91P possibly damaging Het
Bcorl1 T C X: 47,458,237 (GRCm39) V590A probably benign Het
Brf1 C A 12: 112,925,394 (GRCm39) R590S probably damaging Het
Ccdc18 A T 5: 108,296,788 (GRCm39) D197V possibly damaging Het
Ccr6 T C 17: 8,475,284 (GRCm39) V163A probably damaging Het
Cct6b T C 11: 82,632,217 (GRCm39) E257G probably damaging Het
Cdc42bpa A G 1: 179,921,989 (GRCm39) D564G possibly damaging Het
Cdh2 C T 18: 16,762,643 (GRCm39) V434I probably benign Het
Cfap410 A G 10: 77,818,784 (GRCm39) N152D possibly damaging Het
Cltc C T 11: 86,588,166 (GRCm39) V1610M possibly damaging Het
Cnot4 A G 6: 35,028,198 (GRCm39) F473L probably benign Het
Dock3 T C 9: 106,939,254 (GRCm39) K165E probably damaging Het
Duox2 A T 2: 122,115,634 (GRCm39) probably benign Het
Epha7 A G 4: 28,821,587 (GRCm39) S251G possibly damaging Het
Epn1 T A 7: 5,098,035 (GRCm39) V282E probably benign Het
Fat1 T C 8: 45,476,696 (GRCm39) L1914P probably damaging Het
Fbln2 T C 6: 91,233,349 (GRCm39) I611T possibly damaging Het
Fgd6 G T 10: 93,969,946 (GRCm39) M1198I probably damaging Het
Frmpd4 T A X: 166,275,931 (GRCm39) I379F probably damaging Het
Grk4 T A 5: 34,852,126 (GRCm39) D123E probably benign Het
Hc T G 2: 34,899,923 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,089 (GRCm39) Y781C probably damaging Het
Hfe T C 13: 23,890,926 (GRCm39) E71G probably benign Het
Hk1 A G 10: 62,116,919 (GRCm39) probably benign Het
Ifnk G A 4: 35,152,642 (GRCm39) probably benign Het
Kcnv1 C A 15: 44,977,670 (GRCm39) G123C probably damaging Het
Klhl38 A T 15: 58,186,633 (GRCm39) I32N possibly damaging Het
Lpl T C 8: 69,348,452 (GRCm39) V227A probably damaging Het
Lurap1l A T 4: 80,872,094 (GRCm39) S196C probably damaging Het
Mta1 T C 12: 113,084,528 (GRCm39) L91P possibly damaging Het
Nelfe C A 17: 35,073,330 (GRCm39) D288E probably benign Het
Or5p1 T A 7: 107,916,408 (GRCm39) C102* probably null Het
Otof T C 5: 30,528,128 (GRCm39) E1905G probably damaging Het
Pck2 T C 14: 55,781,323 (GRCm39) I148T probably benign Het
Plcl2 G T 17: 50,913,425 (GRCm39) V145F probably damaging Het
Plec A G 15: 76,056,474 (GRCm39) S4510P probably damaging Het
Plxna2 A G 1: 194,434,397 (GRCm39) E641G probably damaging Het
Poglut3 T C 9: 53,299,779 (GRCm39) L96S probably damaging Het
Ppp1r12a C T 10: 108,105,185 (GRCm39) T434M probably damaging Het
Ppp6r3 A T 19: 3,568,245 (GRCm39) N184K possibly damaging Het
Prkar1a G A 11: 109,551,001 (GRCm39) probably benign Het
Psmb1 A T 17: 15,710,546 (GRCm39) M1K probably null Het
Pwwp2a T C 11: 43,596,448 (GRCm39) S538P possibly damaging Het
Rbm25 C T 12: 83,719,527 (GRCm39) R516W probably damaging Het
Rnf103 A G 6: 71,487,172 (GRCm39) D601G probably benign Het
Senp3 A G 11: 69,565,356 (GRCm39) V467A possibly damaging Het
Slc8a3 T G 12: 81,362,457 (GRCm39) T121P probably damaging Het
Slco1a8 A T 6: 141,939,401 (GRCm39) C197* probably null Het
Ssc5d T C 7: 4,936,453 (GRCm39) probably null Het
Tas2r129 G A 6: 132,928,357 (GRCm39) W98* probably null Het
Thoc5 A C 11: 4,876,217 (GRCm39) M609L probably benign Het
Tnip1 G A 11: 54,827,297 (GRCm39) T155M possibly damaging Het
Ttn A G 2: 76,618,672 (GRCm39) V14458A probably benign Het
Unc5cl A G 17: 48,766,809 (GRCm39) E61G probably benign Het
Usp32 T C 11: 84,877,307 (GRCm39) K151E probably damaging Het
Vmn2r121 T C X: 123,042,378 (GRCm39) M260V probably benign Het
Vwa7 G T 17: 35,239,060 (GRCm39) R345L probably damaging Het
Zfp366 G T 13: 99,370,696 (GRCm39) R472L possibly damaging Het
Zfp811 A T 17: 33,017,616 (GRCm39) Y141* probably null Het
Zpbp C T 11: 11,365,248 (GRCm39) E200K probably benign Het
Other mutations in Srrt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Srrt APN 5 137,294,240 (GRCm39) unclassified probably benign
IGL01062:Srrt APN 5 137,294,569 (GRCm39) missense probably damaging 1.00
IGL02656:Srrt APN 5 137,297,938 (GRCm39) unclassified probably benign
IGL03105:Srrt APN 5 137,298,106 (GRCm39) missense possibly damaging 0.72
IGL03137:Srrt APN 5 137,294,379 (GRCm39) unclassified probably benign
R0281:Srrt UTSW 5 137,294,389 (GRCm39) unclassified probably benign
R0322:Srrt UTSW 5 137,294,870 (GRCm39) missense probably damaging 1.00
R0347:Srrt UTSW 5 137,297,938 (GRCm39) unclassified probably benign
R1253:Srrt UTSW 5 137,298,598 (GRCm39) missense probably benign 0.01
R1397:Srrt UTSW 5 137,298,523 (GRCm39) missense possibly damaging 0.89
R1520:Srrt UTSW 5 137,297,028 (GRCm39) missense probably damaging 0.99
R1561:Srrt UTSW 5 137,298,281 (GRCm39) missense probably benign 0.24
R1645:Srrt UTSW 5 137,300,401 (GRCm39) nonsense probably null
R1759:Srrt UTSW 5 137,301,212 (GRCm39) missense probably damaging 1.00
R1770:Srrt UTSW 5 137,298,122 (GRCm39) unclassified probably benign
R1795:Srrt UTSW 5 137,301,274 (GRCm39) unclassified probably benign
R1848:Srrt UTSW 5 137,295,207 (GRCm39) missense probably damaging 1.00
R3838:Srrt UTSW 5 137,300,387 (GRCm39) critical splice donor site probably null
R5015:Srrt UTSW 5 137,294,271 (GRCm39) missense probably damaging 1.00
R5068:Srrt UTSW 5 137,294,803 (GRCm39) missense possibly damaging 0.93
R5163:Srrt UTSW 5 137,295,035 (GRCm39) critical splice donor site probably null
R5316:Srrt UTSW 5 137,294,813 (GRCm39) missense probably benign 0.16
R5343:Srrt UTSW 5 137,295,427 (GRCm39) missense probably damaging 1.00
R5351:Srrt UTSW 5 137,296,546 (GRCm39) makesense probably null
R5412:Srrt UTSW 5 137,294,549 (GRCm39) missense probably damaging 1.00
R5806:Srrt UTSW 5 137,296,179 (GRCm39) missense probably damaging 0.98
R6470:Srrt UTSW 5 137,300,918 (GRCm39) missense probably damaging 1.00
R6497:Srrt UTSW 5 137,295,768 (GRCm39) missense probably damaging 1.00
R6755:Srrt UTSW 5 137,301,192 (GRCm39) missense probably damaging 1.00
R6828:Srrt UTSW 5 137,295,230 (GRCm39) missense probably damaging 1.00
R6875:Srrt UTSW 5 137,296,935 (GRCm39) missense probably benign 0.00
R7586:Srrt UTSW 5 137,300,457 (GRCm39) missense probably damaging 0.98
R7677:Srrt UTSW 5 137,298,410 (GRCm39) missense probably damaging 0.99
R8028:Srrt UTSW 5 137,300,760 (GRCm39) critical splice donor site probably benign
R8413:Srrt UTSW 5 137,298,589 (GRCm39) missense possibly damaging 0.84
R8438:Srrt UTSW 5 137,301,262 (GRCm39) missense unknown
R8795:Srrt UTSW 5 137,298,238 (GRCm39) missense probably benign 0.17
R8925:Srrt UTSW 5 137,297,070 (GRCm39) missense probably benign 0.26
R8927:Srrt UTSW 5 137,297,070 (GRCm39) missense probably benign 0.26
R9024:Srrt UTSW 5 137,301,291 (GRCm39) missense unknown
R9632:Srrt UTSW 5 137,296,689 (GRCm39) missense possibly damaging 0.79
R9667:Srrt UTSW 5 137,295,732 (GRCm39) missense probably damaging 0.96
R9793:Srrt UTSW 5 137,294,835 (GRCm39) missense probably benign 0.37
RF018:Srrt UTSW 5 137,298,262 (GRCm39) missense probably benign 0.23
Z1176:Srrt UTSW 5 137,296,489 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16