Incidental Mutation 'R7971:Csk'
ID 650618
Institutional Source Beutler Lab
Gene Symbol Csk
Ensembl Gene ENSMUSG00000032312
Gene Name c-src tyrosine kinase
Synonyms
MMRRC Submission 046014-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7971 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57533929-57560758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57535970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 260 (G260V)
Ref Sequence ENSEMBL: ENSMUSP00000034863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034863] [ENSMUST00000215396] [ENSMUST00000216934] [ENSMUST00000216979] [ENSMUST00000217128] [ENSMUST00000217314]
AlphaFold P41241
PDB Structure Solution structure of the SH3 domain from C-terminal Src Kinase complexed with a peptide from the tyrosine phosphatase PEP [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000034863
AA Change: G260V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034863
Gene: ENSMUSG00000032312
AA Change: G260V

DomainStartEndE-ValueType
SH3 12 69 1.09e-17 SMART
SH2 80 162 1.96e-35 SMART
TyrKc 195 440 2.37e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215396
AA Change: G260V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000216934
Predicted Effect probably benign
Transcript: ENSMUST00000216979
Predicted Effect probably benign
Transcript: ENSMUST00000217128
Predicted Effect probably benign
Transcript: ENSMUST00000217314
AA Change: G260V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.2337 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, neural tube defects, and developmental arrest at the 10-12 somite stage. Mutants die between embryonic days nine and ten. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik G A 11: 81,754,526 (GRCm39) A16T unknown Het
Abcc1 T A 16: 14,266,443 (GRCm39) D880E probably benign Het
Adamts2 G A 11: 50,647,523 (GRCm39) V299I probably damaging Het
Akap6 T C 12: 53,186,578 (GRCm39) S1331P probably damaging Het
Alms1 T C 6: 85,605,661 (GRCm39) L1968S probably benign Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Cacnb2 A T 2: 14,976,409 (GRCm39) M277L possibly damaging Het
Cd80 T A 16: 38,294,391 (GRCm39) Y91* probably null Het
Cfap46 A G 7: 139,215,043 (GRCm39) S1561P unknown Het
Clasp1 C T 1: 118,449,559 (GRCm39) R647W probably damaging Het
Creld1 T C 6: 113,468,933 (GRCm39) V299A probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dgkg G A 16: 22,388,966 (GRCm39) Q403* probably null Het
Dnaaf2 T C 12: 69,244,119 (GRCm39) D314G probably damaging Het
Dsp T A 13: 38,376,499 (GRCm39) L1428Q probably damaging Het
Fastkd1 A G 2: 69,537,703 (GRCm39) V293A probably benign Het
Gm4353 C A 7: 115,682,747 (GRCm39) S278I possibly damaging Het
Hmgb2 A G 8: 57,966,168 (GRCm39) M75V possibly damaging Het
Hoxa4 G A 6: 52,168,711 (GRCm39) probably benign Het
Ifi206 A T 1: 173,298,976 (GRCm39) W877R unknown Het
Ifi44 T A 3: 151,454,857 (GRCm39) I123F possibly damaging Het
Kcnh6 A G 11: 105,908,353 (GRCm39) Y323C probably damaging Het
Lars1 T C 18: 42,351,631 (GRCm39) T858A probably benign Het
Mest T A 6: 30,740,734 (GRCm39) I38N Het
Npy2r A T 3: 82,448,175 (GRCm39) I200N probably damaging Het
Olfm4 T A 14: 80,259,240 (GRCm39) M496K probably damaging Het
Olfml2a A T 2: 38,831,794 (GRCm39) probably null Het
Omd A T 13: 49,743,730 (GRCm39) H260L probably benign Het
Or8c16 G T 9: 38,130,843 (GRCm39) L238F probably benign Het
Pigk C A 3: 152,450,176 (GRCm39) Q274K probably benign Het
Pmpca G A 2: 26,283,164 (GRCm39) G352R probably damaging Het
Prex1 C T 2: 166,423,859 (GRCm39) S1181N probably damaging Het
Prkg2 A T 5: 99,079,873 (GRCm39) F762Y probably damaging Het
Rcc1l A G 5: 134,194,208 (GRCm39) S250P probably damaging Het
Rufy1 A T 11: 50,312,498 (GRCm39) F152Y probably damaging Het
Scaf1 T A 7: 44,652,965 (GRCm39) T1179S unknown Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Shroom3 C T 5: 93,098,933 (GRCm39) S1471L probably damaging Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Slc13a4 A G 6: 35,248,695 (GRCm39) L484P probably damaging Het
Slc35a1 T C 4: 34,664,161 (GRCm39) D319G probably benign Het
Synm T C 7: 67,384,983 (GRCm39) E893G possibly damaging Het
Tatdn2 A G 6: 113,687,235 (GRCm39) probably null Het
Thada T A 17: 84,580,197 (GRCm39) D1419V possibly damaging Het
Tmem87b A G 2: 128,692,250 (GRCm39) D535G probably null Het
Tnfrsf25 A C 4: 152,204,193 (GRCm39) Q378P probably damaging Het
Trim34a T C 7: 103,897,025 (GRCm39) C30R probably damaging Het
Triml2 T C 8: 43,643,313 (GRCm39) S212P probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Other mutations in Csk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01906:Csk APN 9 57,536,304 (GRCm39) missense probably damaging 1.00
IGL02558:Csk APN 9 57,537,546 (GRCm39) missense probably benign
IGL02723:Csk APN 9 57,538,672 (GRCm39) utr 5 prime probably benign
Clorets UTSW 9 57,537,585 (GRCm39) missense probably benign 0.03
R0349:Csk UTSW 9 57,535,477 (GRCm39) missense probably damaging 0.98
R1553:Csk UTSW 9 57,538,225 (GRCm39) missense probably damaging 1.00
R3196:Csk UTSW 9 57,537,556 (GRCm39) nonsense probably null
R3980:Csk UTSW 9 57,538,063 (GRCm39) missense probably damaging 1.00
R4912:Csk UTSW 9 57,538,063 (GRCm39) missense probably damaging 1.00
R5231:Csk UTSW 9 57,537,661 (GRCm39) missense probably damaging 1.00
R5574:Csk UTSW 9 57,536,584 (GRCm39) missense probably benign 0.00
R5894:Csk UTSW 9 57,535,958 (GRCm39) missense probably damaging 0.99
R5898:Csk UTSW 9 57,537,585 (GRCm39) missense probably benign 0.03
R7542:Csk UTSW 9 57,536,283 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTCTGAAAAGGTTGGCATGACTTG -3'
(R):5'- AGAATGACGCAACTGCCCAG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- AACTGCCCAGGCCTTCC -3'
Posted On 2020-09-15