Incidental Mutation 'IGL02232:Srrm1'
ID 285767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srrm1
Ensembl Gene ENSMUSG00000028809
Gene Name serine/arginine repetitive matrix 1
Synonyms SRm160
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02232
Quality Score
Status
Chromosome 4
Chromosomal Location 135047795-135080632 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 135080427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000125003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030613] [ENSMUST00000084846] [ENSMUST00000105861] [ENSMUST00000131373] [ENSMUST00000136342]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030613
AA Change: M1K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030613
Gene: ENSMUSG00000028809
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
PWI 40 115 2.25e-42 SMART
low complexity region 124 141 N/A INTRINSIC
low complexity region 148 227 N/A INTRINSIC
low complexity region 248 407 N/A INTRINSIC
internal_repeat_2 409 455 4.31e-5 PROSPERO
internal_repeat_1 427 456 3.46e-6 PROSPERO
low complexity region 476 500 N/A INTRINSIC
low complexity region 517 534 N/A INTRINSIC
low complexity region 555 661 N/A INTRINSIC
internal_repeat_1 666 700 3.46e-6 PROSPERO
internal_repeat_3 670 693 4.31e-5 PROSPERO
internal_repeat_4 684 698 4.31e-5 PROSPERO
internal_repeat_2 689 734 4.31e-5 PROSPERO
internal_repeat_3 719 740 4.31e-5 PROSPERO
internal_repeat_5 730 740 8.09e-5 PROSPERO
low complexity region 746 795 N/A INTRINSIC
internal_repeat_4 799 813 4.31e-5 PROSPERO
internal_repeat_5 808 818 8.09e-5 PROSPERO
low complexity region 827 851 N/A INTRINSIC
low complexity region 854 886 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000084846
AA Change: M1K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081906
Gene: ENSMUSG00000028809
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
PWI 40 115 2.25e-42 SMART
low complexity region 124 141 N/A INTRINSIC
low complexity region 148 227 N/A INTRINSIC
low complexity region 248 402 N/A INTRINSIC
internal_repeat_2 404 450 3.57e-5 PROSPERO
internal_repeat_1 422 451 2.79e-6 PROSPERO
low complexity region 471 495 N/A INTRINSIC
low complexity region 512 529 N/A INTRINSIC
low complexity region 550 656 N/A INTRINSIC
internal_repeat_1 661 695 2.79e-6 PROSPERO
internal_repeat_3 665 688 3.57e-5 PROSPERO
internal_repeat_4 679 693 3.57e-5 PROSPERO
internal_repeat_2 684 729 3.57e-5 PROSPERO
internal_repeat_3 714 735 3.57e-5 PROSPERO
internal_repeat_5 725 735 6.75e-5 PROSPERO
low complexity region 741 790 N/A INTRINSIC
internal_repeat_4 794 808 3.57e-5 PROSPERO
internal_repeat_5 803 813 6.75e-5 PROSPERO
low complexity region 822 846 N/A INTRINSIC
low complexity region 849 886 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105861
AA Change: M1K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101487
Gene: ENSMUSG00000028809
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
PWI 40 115 2.25e-42 SMART
low complexity region 124 141 N/A INTRINSIC
low complexity region 148 227 N/A INTRINSIC
low complexity region 248 407 N/A INTRINSIC
internal_repeat_2 409 455 1.99e-5 PROSPERO
internal_repeat_1 427 456 1.45e-6 PROSPERO
low complexity region 476 500 N/A INTRINSIC
low complexity region 517 534 N/A INTRINSIC
low complexity region 539 647 N/A INTRINSIC
internal_repeat_1 652 686 1.45e-6 PROSPERO
internal_repeat_3 656 679 1.99e-5 PROSPERO
internal_repeat_4 670 684 1.99e-5 PROSPERO
internal_repeat_2 675 720 1.99e-5 PROSPERO
internal_repeat_3 705 726 1.99e-5 PROSPERO
internal_repeat_5 716 726 3.82e-5 PROSPERO
low complexity region 732 781 N/A INTRINSIC
internal_repeat_4 785 799 1.99e-5 PROSPERO
internal_repeat_5 794 804 3.82e-5 PROSPERO
low complexity region 813 837 N/A INTRINSIC
low complexity region 840 877 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000131373
AA Change: M1K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122754
Gene: ENSMUSG00000028809
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
PWI 40 115 2.25e-42 SMART
low complexity region 124 141 N/A INTRINSIC
low complexity region 145 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134854
Predicted Effect probably null
Transcript: ENSMUST00000136342
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125003
Gene: ENSMUSG00000028809
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
PWI 40 115 2.25e-42 SMART
low complexity region 124 141 N/A INTRINSIC
low complexity region 148 227 N/A INTRINSIC
low complexity region 248 407 N/A INTRINSIC
internal_repeat_2 409 455 3.36e-5 PROSPERO
internal_repeat_1 427 456 2.61e-6 PROSPERO
low complexity region 476 500 N/A INTRINSIC
low complexity region 517 534 N/A INTRINSIC
low complexity region 555 661 N/A INTRINSIC
internal_repeat_1 666 700 2.61e-6 PROSPERO
internal_repeat_3 670 693 3.36e-5 PROSPERO
internal_repeat_4 684 698 3.36e-5 PROSPERO
internal_repeat_2 689 734 3.36e-5 PROSPERO
internal_repeat_3 719 740 3.36e-5 PROSPERO
internal_repeat_5 730 740 6.37e-5 PROSPERO
low complexity region 746 795 N/A INTRINSIC
internal_repeat_4 799 813 3.36e-5 PROSPERO
internal_repeat_5 808 818 6.37e-5 PROSPERO
low complexity region 827 851 N/A INTRINSIC
low complexity region 854 891 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150619
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F probably damaging Het
Other mutations in Srrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Srrm1 APN 4 135,074,518 (GRCm39) splice site probably null
IGL02070:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02073:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02193:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02377:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02379:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02380:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02382:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02386:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02387:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02393:Srrm1 APN 4 135,048,725 (GRCm39) unclassified probably benign
IGL02436:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02438:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02439:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02440:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02500:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02561:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02562:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02566:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02567:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02568:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02569:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02570:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02572:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02583:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02584:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02585:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02586:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02587:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02588:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02589:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02596:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02597:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02601:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02602:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02609:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02614:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02631:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02632:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02657:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02658:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02659:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02660:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02677:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02683:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02686:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02690:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02713:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02723:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02724:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02725:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02730:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02731:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02732:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02733:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02734:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02743:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02744:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
IGL02752:Srrm1 APN 4 135,052,415 (GRCm39) missense unknown
Serious UTSW 4 135,068,237 (GRCm39) nonsense probably null
R0131:Srrm1 UTSW 4 135,067,884 (GRCm39) nonsense probably null
R0131:Srrm1 UTSW 4 135,067,884 (GRCm39) nonsense probably null
R0132:Srrm1 UTSW 4 135,067,884 (GRCm39) nonsense probably null
R0510:Srrm1 UTSW 4 135,065,854 (GRCm39) intron probably benign
R0691:Srrm1 UTSW 4 135,052,302 (GRCm39) nonsense probably null
R1337:Srrm1 UTSW 4 135,074,044 (GRCm39) critical splice donor site probably null
R1397:Srrm1 UTSW 4 135,048,742 (GRCm39) unclassified probably benign
R2883:Srrm1 UTSW 4 135,048,722 (GRCm39) unclassified probably benign
R4043:Srrm1 UTSW 4 135,068,242 (GRCm39) unclassified probably benign
R4772:Srrm1 UTSW 4 135,069,690 (GRCm39) unclassified probably benign
R4837:Srrm1 UTSW 4 135,072,823 (GRCm39) intron probably benign
R4975:Srrm1 UTSW 4 135,074,031 (GRCm39) splice site probably benign
R5401:Srrm1 UTSW 4 135,051,380 (GRCm39) splice site probably benign
R6144:Srrm1 UTSW 4 135,065,184 (GRCm39) unclassified probably benign
R6542:Srrm1 UTSW 4 135,068,237 (GRCm39) nonsense probably null
R7147:Srrm1 UTSW 4 135,074,137 (GRCm39) missense probably damaging 0.98
R8054:Srrm1 UTSW 4 135,052,326 (GRCm39) missense unknown
R8371:Srrm1 UTSW 4 135,052,532 (GRCm39) missense unknown
R8523:Srrm1 UTSW 4 135,051,313 (GRCm39) missense unknown
R8767:Srrm1 UTSW 4 135,059,532 (GRCm39) missense unknown
Z1177:Srrm1 UTSW 4 135,059,052 (GRCm39) missense unknown
Z1177:Srrm1 UTSW 4 135,051,309 (GRCm39) missense unknown
Posted On 2015-04-16