Incidental Mutation 'R9061:Srcin1'
ID 688987
Institutional Source Beutler Lab
Gene Symbol Srcin1
Ensembl Gene ENSMUSG00000038453
Gene Name SRC kinase signaling inhibitor 1
Synonyms p140Cap, P140
MMRRC Submission 068887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9061 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97400166-97466059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97427206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 257 (L257P)
Ref Sequence ENSEMBL: ENSMUSP00000103222 (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: L258P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: L258P

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: L258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: L258P

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: L257P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: L257P

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
SMART Domains Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: L283P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,133 (GRCm39) M1T probably null Het
Abca13 A G 11: 9,227,847 (GRCm39) E630G probably benign Het
Abcf2 T A 5: 24,778,504 (GRCm39) H218L possibly damaging Het
Abo A T 2: 26,733,395 (GRCm39) M268K probably benign Het
Ankrd33 G T 15: 101,014,029 (GRCm39) probably benign Het
Apc G C 18: 34,446,251 (GRCm39) R1049T probably damaging Het
Atg16l2 T C 7: 100,941,338 (GRCm39) K412E probably damaging Het
Cachd1 G A 4: 100,809,202 (GRCm39) probably null Het
Ccdc152 T G 15: 3,330,643 (GRCm39) K11Q probably damaging Het
Ccdc38 T A 10: 93,401,735 (GRCm39) W232R probably damaging Het
Cluh C T 11: 74,551,192 (GRCm39) P347L possibly damaging Het
Cntn3 A G 6: 102,314,288 (GRCm39) L142P probably damaging Het
Ctnnd2 T A 15: 30,806,884 (GRCm39) M601K probably damaging Het
D930048N14Rik G A 11: 51,545,734 (GRCm39) D209N unknown Het
Dcaf6 A T 1: 165,164,332 (GRCm39) N814K probably damaging Het
Dhx8 A T 11: 101,632,406 (GRCm39) D455V possibly damaging Het
Fcna A C 2: 25,514,956 (GRCm39) L301W possibly damaging Het
Garin1b C T 6: 29,323,902 (GRCm39) T209I probably benign Het
Gdf9 T G 11: 53,324,269 (GRCm39) C13G probably damaging Het
Hells T A 19: 38,933,858 (GRCm39) N226K probably damaging Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ifi207 A T 1: 173,564,153 (GRCm39) probably benign Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kirrel2 T C 7: 30,150,305 (GRCm39) I508V probably benign Het
Klhl38 T A 15: 58,186,022 (GRCm39) I236F probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc1 A T 1: 153,126,870 (GRCm39) C425* probably null Het
Letm1 A G 5: 33,918,213 (GRCm39) F311L probably damaging Het
Lypd11 A T 7: 24,422,173 (GRCm39) I192N possibly damaging Het
Mapk8ip2 T C 15: 89,342,016 (GRCm39) V409A possibly damaging Het
Mybpc1 C T 10: 88,391,501 (GRCm39) C318Y probably damaging Het
Myo15a A G 11: 60,393,692 (GRCm39) Y1141C Het
Ndufv2 T A 17: 66,390,475 (GRCm39) D165V probably damaging Het
Nrde2 T C 12: 100,110,123 (GRCm39) K303E probably benign Het
Nup205 T A 6: 35,196,808 (GRCm39) probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2f2 A T 6: 42,767,141 (GRCm39) H56L probably damaging Het
Or5b118 A G 19: 13,448,523 (GRCm39) N21S probably damaging Het
Otof C T 5: 30,546,001 (GRCm39) V451I possibly damaging Het
Pask G A 1: 93,253,191 (GRCm39) Q399* probably null Het
Pbk T A 14: 66,049,439 (GRCm39) F39I probably benign Het
Pdzd2 T C 15: 12,374,753 (GRCm39) K1794R possibly damaging Het
Pibf1 T C 14: 99,424,069 (GRCm39) probably null Het
Ppip5k2 G A 1: 97,645,187 (GRCm39) T1089I probably damaging Het
Ppp1cb T A 5: 32,635,492 (GRCm39) F45L possibly damaging Het
Pramel21 T G 4: 143,342,741 (GRCm39) S283A possibly damaging Het
Samd4 T C 14: 47,301,728 (GRCm39) F344S probably damaging Het
Slc2a13 C T 15: 91,234,333 (GRCm39) M334I possibly damaging Het
Slc37a1 C T 17: 31,556,365 (GRCm39) A363V probably damaging Het
Slc8a3 T A 12: 81,263,540 (GRCm39) I616F probably damaging Het
Tarbp1 A G 8: 127,173,880 (GRCm39) F945L probably damaging Het
Thbs4 A T 13: 92,911,187 (GRCm39) probably null Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim62 G A 4: 128,802,963 (GRCm39) V338M probably damaging Het
Ttll9 C T 2: 152,818,113 (GRCm39) H20Y possibly damaging Het
Uevld A T 7: 46,587,806 (GRCm39) I298N probably damaging Het
Zan T C 5: 137,462,653 (GRCm39) E842G probably damaging Het
Zdbf2 T G 1: 63,346,296 (GRCm39) S1558R 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
R6756:Srcin1 UTSW 11 97,425,836 (GRCm39) missense probably damaging 1.00
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
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'- TAGGGTGCAGATTGACCTAGG -3'
(R):5'- ACCTTGTCATTGTGGGACG -3'

Sequencing Primer
(F):5'- GGAAGGACCACCAAGGGTCC -3'
(R):5'- TGAGGGCTCACCACACTCTC -3'
Posted On 2021-11-19