Incidental Mutation 'IGL00337:Srrt'
ID 5521
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 # IGL00337
Quality Score
Status
Chromosome 5
Chromosomal Location 137293966-137305936 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 137294240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000196109] [ENSMUST00000199243] [ENSMUST00000197466] [ENSMUST00000198526] [ENSMUST00000196208]
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 benign
Transcript: ENSMUST00000040873
SMART Domains Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364

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 benign
Transcript: ENSMUST00000196109
SMART Domains Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364

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 benign
Transcript: ENSMUST00000199243
SMART Domains Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364

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
SMART Domains Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364

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 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 noncoding transcript
Transcript: ENSMUST00000184197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196394
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 noncoding transcript
Transcript: ENSMUST00000199473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200643
Predicted Effect probably benign
Transcript: ENSMUST00000199605
Predicted Effect probably benign
Transcript: ENSMUST00000199756
Predicted Effect probably benign
Transcript: ENSMUST00000223263
Predicted Effect probably benign
Transcript: ENSMUST00000199365
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A T 3: 127,614,401 (GRCm39) probably benign Het
Ap1ar A C 3: 127,614,400 (GRCm39) probably benign Het
Apip A T 2: 102,922,257 (GRCm39) T208S probably benign Het
Arhgap11a A G 2: 113,672,287 (GRCm39) V227A probably damaging Het
Atrn G T 2: 130,799,999 (GRCm39) V459F probably damaging Het
Cep295 T C 9: 15,237,368 (GRCm39) probably null Het
Cfhr1 A G 1: 139,484,253 (GRCm39) probably benign Het
D5Ertd615e A G 5: 45,320,769 (GRCm39) noncoding transcript Het
Dhx29 A G 13: 113,101,137 (GRCm39) I1227V probably benign Het
Fam98a T C 17: 75,858,742 (GRCm39) D16G probably damaging Het
Frk A G 10: 34,360,239 (GRCm39) D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 (GRCm39) H354Q probably damaging Het
Ggps1 G A 13: 14,228,973 (GRCm39) S70L probably damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpx T C 7: 105,240,977 (GRCm39) Y432C probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Il10rb G A 16: 91,203,227 (GRCm39) A8T probably benign Het
Ing5 G T 1: 93,733,816 (GRCm39) M1I probably null Het
Kcnc4 C T 3: 107,355,189 (GRCm39) D420N probably benign Het
Kcnj8 T C 6: 142,515,961 (GRCm39) N49D probably damaging Het
Kif26b C A 1: 178,743,213 (GRCm39) A656D probably damaging Het
Klc4 T C 17: 46,946,361 (GRCm39) E488G probably damaging Het
Mtmr4 C T 11: 87,502,750 (GRCm39) H878Y probably benign Het
Ndufaf7 T C 17: 79,254,520 (GRCm39) probably benign Het
Nlrp14 T G 7: 106,781,308 (GRCm39) D168E possibly damaging Het
Ogdhl T C 14: 32,055,669 (GRCm39) F251S probably damaging Het
Or1p1 T C 11: 74,180,213 (GRCm39) V247A probably damaging Het
P2rx5 A T 11: 73,058,318 (GRCm39) probably null Het
Parp14 G A 16: 35,661,445 (GRCm39) T1501I probably benign Het
Prl3c1 C A 13: 27,384,746 (GRCm39) T85K probably damaging Het
Psg27 A G 7: 18,295,729 (GRCm39) Y239H probably damaging Het
Pzp T C 6: 128,493,872 (GRCm39) R300G probably benign Het
Sec16a A G 2: 26,329,499 (GRCm39) S839P probably benign Het
Sphkap T A 1: 83,317,329 (GRCm39) D56V probably damaging Het
Sstr3 T A 15: 78,424,667 (GRCm39) T27S probably benign Het
Taf1d C A 9: 15,222,899 (GRCm39) S255Y probably damaging Het
Tbc1d15 C A 10: 115,045,546 (GRCm39) E473* probably null Het
Tmem247 T C 17: 87,224,963 (GRCm39) V24A probably benign Het
Txnrd2 T C 16: 18,296,519 (GRCm39) C494R probably damaging Het
Zfp180 A G 7: 23,784,894 (GRCm39) D5G probably damaging Het
Other mutations in Srrt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Srrt APN 5 137,294,569 (GRCm39) missense probably damaging 1.00
IGL02227:Srrt APN 5 137,294,536 (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 2012-04-20