Incidental Mutation 'R6756:Srcin1'
ID 531066
Institutional Source Beutler Lab
Gene Symbol Srcin1
Ensembl Gene ENSMUSG00000038453
Gene Name SRC kinase signaling inhibitor 1
Synonyms p140Cap, P140
MMRRC Submission 044872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6756 (G1)
Quality Score 123.008
Status Not validated
Chromosome 11
Chromosomal Location 97400166-97466059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97425836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 433 (D433G)
Ref Sequence ENSEMBL: ENSMUSP00000116444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107590] [ENSMUST00000107593] [ENSMUST00000107596] [ENSMUST00000126287]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107590
AA Change: D408G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: D408G

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
Blast:THAP 113 142 1e-9 BLAST
low complexity region 332 366 N/A INTRINSIC
low complexity region 489 501 N/A INTRINSIC
low complexity region 516 538 N/A INTRINSIC
low complexity region 558 575 N/A INTRINSIC
low complexity region 655 679 N/A INTRINSIC
low complexity region 699 712 N/A INTRINSIC
coiled coil region 751 784 N/A INTRINSIC
low complexity region 1034 1051 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107593
AA Change: D408G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: D408G

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
Blast:THAP 113 142 1e-9 BLAST
low complexity region 332 366 N/A INTRINSIC
low complexity region 489 501 N/A INTRINSIC
low complexity region 516 538 N/A INTRINSIC
low complexity region 558 575 N/A INTRINSIC
low complexity region 655 679 N/A INTRINSIC
low complexity region 699 712 N/A INTRINSIC
coiled coil region 751 784 N/A INTRINSIC
low complexity region 1034 1051 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107596
AA Change: D407G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: D407G

DomainStartEndE-ValueType
low complexity region 32 41 N/A INTRINSIC
Blast:THAP 79 108 8e-10 BLAST
low complexity region 118 128 N/A INTRINSIC
Pfam:AIP3 218 330 2e-11 PFAM
low complexity region 331 365 N/A INTRINSIC
low complexity region 488 500 N/A INTRINSIC
low complexity region 515 537 N/A INTRINSIC
low complexity region 557 574 N/A INTRINSIC
low complexity region 654 678 N/A INTRINSIC
low complexity region 698 711 N/A INTRINSIC
coiled coil region 750 783 N/A INTRINSIC
low complexity region 1033 1050 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126287
AA Change: D433G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: D433G

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
Blast:THAP 113 142 7e-10 BLAST
low complexity region 152 162 N/A INTRINSIC
Pfam:AIP3 244 339 9.7e-10 PFAM
low complexity region 357 391 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display abnormalities in object recognition memory and motor learning, dendritic spine disorganization, impaired synaptic plasticity, and reduced long term potentiation and long term depression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,298,512 (GRCm39) probably null Het
Adam7 T C 14: 68,762,728 (GRCm39) T166A probably benign Het
Ahnak G A 19: 8,984,925 (GRCm39) V2070M possibly damaging Het
Atp6v1a T A 16: 43,909,421 (GRCm39) T537S probably benign Het
Atp8b3 C T 10: 80,361,895 (GRCm39) E719K possibly damaging Het
Clba1 T C 12: 112,775,820 (GRCm39) L192P probably damaging Het
Dpy19l1 T C 9: 24,385,080 (GRCm39) T250A probably damaging Het
Fra10ac1 A C 19: 38,204,313 (GRCm39) Y88D probably damaging Het
Gm21738 C T 14: 19,418,824 (GRCm38) V35I possibly damaging Het
H2-M9 G T 17: 36,953,227 (GRCm39) H27N probably damaging Het
Hivep2 T C 10: 14,008,303 (GRCm39) C1634R probably damaging Het
Meiob A T 17: 25,058,506 (GRCm39) T470S possibly damaging Het
Ms4a7 T C 19: 11,301,889 (GRCm39) H35R possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nf1 T A 11: 79,335,413 (GRCm39) probably null Het
Npc1l1 T C 11: 6,165,153 (GRCm39) Y1053C probably damaging Het
Or4p21 T C 2: 88,277,078 (GRCm39) D68G possibly damaging Het
Or51a25 T C 7: 102,373,295 (GRCm39) N134S probably benign Het
Pcdh10 T C 3: 45,334,541 (GRCm39) V285A possibly damaging Het
Phldb2 A T 16: 45,628,683 (GRCm39) C550S probably benign Het
Phldb3 T C 7: 24,326,756 (GRCm39) Y595H probably damaging Het
Plekha8 C T 6: 54,601,125 (GRCm39) Q288* probably null Het
Ppp1r36 G A 12: 76,474,696 (GRCm39) A64T probably benign Het
Ptprd T C 4: 75,873,536 (GRCm39) T1320A probably damaging Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Recql4 T C 15: 76,589,059 (GRCm39) D943G probably benign Het
Slc24a2 A G 4: 87,094,529 (GRCm39) I330T probably benign Het
Upb1 A G 10: 75,264,135 (GRCm39) T194A possibly damaging Het
Other mutations in Srcin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01874:Srcin1 APN 11 97,423,924 (GRCm39) missense possibly damaging 0.81
IGL03347:Srcin1 APN 11 97,416,170 (GRCm39) missense probably damaging 1.00
R1619:Srcin1 UTSW 11 97,416,307 (GRCm39) missense probably damaging 1.00
R1678:Srcin1 UTSW 11 97,409,470 (GRCm39) missense probably damaging 0.99
R1733:Srcin1 UTSW 11 97,424,327 (GRCm39) missense probably benign
R2023:Srcin1 UTSW 11 97,416,872 (GRCm39) missense probably benign
R2238:Srcin1 UTSW 11 97,425,645 (GRCm39) missense probably benign 0.00
R3983:Srcin1 UTSW 11 97,416,379 (GRCm39) missense probably damaging 1.00
R4572:Srcin1 UTSW 11 97,425,760 (GRCm39) missense probably damaging 1.00
R4628:Srcin1 UTSW 11 97,439,752 (GRCm39) missense probably benign 0.12
R4946:Srcin1 UTSW 11 97,442,768 (GRCm39) missense probably damaging 1.00
R5175:Srcin1 UTSW 11 97,464,703 (GRCm39) missense probably damaging 0.99
R5424:Srcin1 UTSW 11 97,427,885 (GRCm39) nonsense probably null
R5705:Srcin1 UTSW 11 97,439,777 (GRCm39) missense probably benign 0.42
R5918:Srcin1 UTSW 11 97,424,323 (GRCm39) splice site probably null
R6563:Srcin1 UTSW 11 97,425,600 (GRCm39) missense possibly damaging 0.74
R6613:Srcin1 UTSW 11 97,424,653 (GRCm39) missense possibly damaging 0.94
R6805:Srcin1 UTSW 11 97,442,806 (GRCm39) critical splice acceptor site probably null
R7060:Srcin1 UTSW 11 97,464,711 (GRCm39) missense probably damaging 0.99
R7271:Srcin1 UTSW 11 97,442,715 (GRCm39) missense probably damaging 0.99
R7304:Srcin1 UTSW 11 97,442,519 (GRCm39) missense probably benign 0.01
R7469:Srcin1 UTSW 11 97,425,435 (GRCm39) missense probably damaging 0.98
R7567:Srcin1 UTSW 11 97,425,551 (GRCm39) missense probably damaging 1.00
R7846:Srcin1 UTSW 11 97,416,926 (GRCm39) nonsense probably null
R7994:Srcin1 UTSW 11 97,422,742 (GRCm39) missense probably damaging 1.00
R8203:Srcin1 UTSW 11 97,457,539 (GRCm39) missense probably damaging 1.00
R8377:Srcin1 UTSW 11 97,442,804 (GRCm39) missense probably damaging 0.99
R8488:Srcin1 UTSW 11 97,416,686 (GRCm39) splice site probably null
R8559:Srcin1 UTSW 11 97,427,975 (GRCm39) missense probably damaging 1.00
R8690:Srcin1 UTSW 11 97,414,368 (GRCm39) missense probably damaging 1.00
R8794:Srcin1 UTSW 11 97,439,803 (GRCm39) missense probably benign 0.00
R8982:Srcin1 UTSW 11 97,426,624 (GRCm39) missense probably damaging 1.00
R9061:Srcin1 UTSW 11 97,427,206 (GRCm39) missense probably damaging 1.00
R9253:Srcin1 UTSW 11 97,416,377 (GRCm39) missense probably damaging 1.00
R9632:Srcin1 UTSW 11 97,442,648 (GRCm39) missense probably benign 0.11
X0024:Srcin1 UTSW 11 97,427,294 (GRCm39) missense probably damaging 1.00
Z1176:Srcin1 UTSW 11 97,409,553 (GRCm39) missense possibly damaging 0.88
Z1177:Srcin1 UTSW 11 97,417,687 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGTACAGCGAGTCCTCCAG -3'
(R):5'- CTTCTGCTCAGAGAGAAATGGTTTAC -3'

Sequencing Primer
(F):5'- AGTCCTCCAGGTCGGACTG -3'
(R):5'- AGAAATGGTTTACGCGTCGC -3'
Posted On 2018-08-01