Incidental Mutation 'IGL02377:Srrm1'
ID 291149
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 # IGL02377
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Atp8b3 A G 10: 80,356,128 (GRCm39) S1195P probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Ccne1 A G 7: 37,798,415 (GRCm39) probably null Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dlg3 A T X: 99,817,007 (GRCm39) Y326F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Emg1 A G 6: 124,681,620 (GRCm39) V208A probably benign Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pex14 T C 4: 149,050,743 (GRCm39) Q174R probably benign Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* 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
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