Incidental Mutation 'IGL02379:Srrm1'
ID 291260
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 # IGL02379
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,760,106 (GRCm39) I996F probably damaging Het
Adamts9 T A 6: 92,774,014 (GRCm39) D1133V probably damaging Het
Adi1 T A 12: 28,729,466 (GRCm39) D106E probably damaging Het
Agl A G 3: 116,572,740 (GRCm39) F837S probably damaging Het
Alb T A 5: 90,613,738 (GRCm39) D207E probably benign Het
Alms1 T G 6: 85,606,615 (GRCm39) V2286G probably damaging Het
Alpl G A 4: 137,469,869 (GRCm39) A485V probably damaging Het
Antxrl C A 14: 33,778,492 (GRCm39) probably null Het
Apc C T 18: 34,431,798 (GRCm39) T417I probably benign Het
Ash2l T C 8: 26,312,799 (GRCm39) D390G probably damaging Het
Asph G A 4: 9,474,980 (GRCm39) P582S probably damaging Het
Bcr T A 10: 74,992,980 (GRCm39) L825Q probably benign Het
Bhlha15 T A 5: 144,128,159 (GRCm39) N90K probably damaging Het
Cgnl1 T A 9: 71,552,835 (GRCm39) Y1043F possibly damaging Het
Chek1 T C 9: 36,635,242 (GRCm39) D47G probably benign Het
Clca4b T A 3: 144,627,619 (GRCm39) M451L probably benign Het
Csnk1g3 T C 18: 54,066,564 (GRCm39) S346P probably benign Het
Cspg4 G T 9: 56,799,893 (GRCm39) probably benign Het
Ctr9 A G 7: 110,650,726 (GRCm39) K884E probably damaging Het
Cyld T A 8: 89,471,556 (GRCm39) C813* probably null Het
Fn3k A T 11: 121,325,950 (GRCm39) T46S probably benign Het
Foxred1 T C 9: 35,121,282 (GRCm39) R89G probably benign Het
Gpr174 T C X: 106,337,084 (GRCm39) F299L probably damaging Het
Hdac7 T C 15: 97,706,266 (GRCm39) D312G probably damaging Het
Il36b A G 2: 24,044,650 (GRCm39) S17G probably benign Het
Kcna5 G T 6: 126,511,472 (GRCm39) P219T probably damaging Het
Kcnh2 A C 5: 24,531,636 (GRCm39) V425G probably damaging Het
Klk1b5 A G 7: 43,500,246 (GRCm39) N278S probably damaging Het
Mars2 T A 1: 55,277,212 (GRCm39) W272R probably damaging Het
Msl3l2 C A 10: 55,992,017 (GRCm39) S247R possibly damaging Het
Myh7 T C 14: 55,216,925 (GRCm39) E1144G probably damaging Het
Nefm T C 14: 68,357,688 (GRCm39) probably benign Het
Nwd2 A G 5: 63,962,644 (GRCm39) K743E probably damaging Het
Nyap2 C T 1: 81,065,147 (GRCm39) T53I probably damaging Het
Odad4 A T 11: 100,457,809 (GRCm39) N471Y possibly damaging Het
Or10ag58 T C 2: 87,265,668 (GRCm39) V279A probably benign Het
Or52z12 T C 7: 103,234,099 (GRCm39) V290A possibly damaging Het
Peli2 A G 14: 48,405,755 (GRCm39) H60R probably damaging Het
Pias2 T A 18: 77,232,844 (GRCm39) probably benign Het
Pik3c2b A G 1: 133,022,529 (GRCm39) D1157G probably damaging Het
Pip4k2a C T 2: 18,870,922 (GRCm39) probably null Het
Raf1 A T 6: 115,621,509 (GRCm39) D23E probably benign Het
Rhox10 G A X: 37,155,733 (GRCm39) R87H probably benign Het
Rpgrip1 A G 14: 52,376,345 (GRCm39) T449A possibly damaging Het
Serpina3a T A 12: 104,084,919 (GRCm39) S105T probably benign Het
Slc12a9 T G 5: 137,319,691 (GRCm39) Q608P probably damaging Het
Smg6 C A 11: 74,944,751 (GRCm39) P167T probably damaging Het
Spata7 C T 12: 98,600,519 (GRCm39) T44I probably damaging Het
Spink12 C T 18: 44,239,575 (GRCm39) probably benign Het
Stag2 C T X: 41,339,474 (GRCm39) T754I probably benign Het
Supt6 C T 11: 78,116,195 (GRCm39) V723M possibly damaging Het
Ubr3 A G 2: 69,778,832 (GRCm39) D614G possibly damaging Het
Vps39 T A 2: 120,154,089 (GRCm39) K624N probably benign Het
Vwa5b1 A T 4: 138,340,170 (GRCm39) L29Q probably damaging Het
Wtap G A 17: 13,188,336 (GRCm39) A188V probably benign Het
Zc3hc1 A G 6: 30,390,974 (GRCm39) F5L probably benign Het
Zfp655 C T 5: 145,180,765 (GRCm39) P208S probably benign Het
Zswim3 A T 2: 164,662,602 (GRCm39) probably null 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
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