Incidental Mutation 'IGL02677:Srrm1'
ID 303166
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 # IGL02677
Quality Score
Status
Chromosome 4
Chromosomal Location 135047795-135080632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135052415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 658 (P658L)
Ref Sequence ENSEMBL: ENSMUSP00000125003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030613] [ENSMUST00000084846] [ENSMUST00000105861] [ENSMUST00000136342]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000030613
AA Change: P658L
SMART Domains Protein: ENSMUSP00000030613
Gene: ENSMUSG00000028809
AA Change: P658L

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 unknown
Transcript: ENSMUST00000084846
AA Change: P653L
SMART Domains Protein: ENSMUSP00000081906
Gene: ENSMUSG00000028809
AA Change: P653L

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 unknown
Transcript: ENSMUST00000105861
AA Change: P644L
SMART Domains Protein: ENSMUSP00000101487
Gene: ENSMUSG00000028809
AA Change: P644L

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 unknown
Transcript: ENSMUST00000136342
AA Change: P658L
SMART Domains Protein: ENSMUSP00000125003
Gene: ENSMUSG00000028809
AA Change: P658L

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: ENSMUST00000136570
Predicted Effect unknown
Transcript: ENSMUST00000140050
AA Change: P103L
SMART Domains Protein: ENSMUSP00000120952
Gene: ENSMUSG00000028809
AA Change: P103L

DomainStartEndE-ValueType
low complexity region 2 107 N/A INTRINSIC
internal_repeat_1 116 145 9.96e-7 PROSPERO
internal_repeat_1 165 196 9.96e-7 PROSPERO
low complexity region 202 225 N/A INTRINSIC
low complexity region 257 281 N/A INTRINSIC
low complexity region 284 316 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162914
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign 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
IGL02232:Srrm1 APN 4 135,080,427 (GRCm39) start codon destroyed probably null 1.00
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
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