Incidental Mutation 'R5015:Srrt'
ID 385494
Institutional Source Beutler Lab
Gene Symbol Srrt
Ensembl Gene ENSMUSG00000037364
Gene Name serrate RNA effector molecule homolog (Arabidopsis)
Synonyms Asr2, Ars2, 2810019G02Rik
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 137293966-137305936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137294271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 486 (Y486N)
Ref Sequence ENSEMBL: ENSMUSP00000142351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000196109] [ENSMUST00000197466] [ENSMUST00000199243] [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 damaging
Transcript: ENSMUST00000040873
AA Change: Y844N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: Y844N

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: Y486N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364
AA Change: Y486N

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 possibly damaging
Transcript: ENSMUST00000197466
AA Change: Y833N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: Y833N

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 damaging
Transcript: ENSMUST00000199243
AA Change: Y837N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: Y837N

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 noncoding transcript
Transcript: ENSMUST00000197376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197144
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 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 unknown
Transcript: ENSMUST00000199756
AA Change: Y262N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200643
Predicted Effect probably benign
Transcript: ENSMUST00000223263
Predicted Effect probably benign
Transcript: ENSMUST00000199365
Predicted Effect probably benign
Transcript: ENSMUST00000199605
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTCACGGGTACTGATGTAG -3'
(R):5'- GTCTGTAGGCGGCTACAAAG -3'

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