Incidental Mutation 'IGL02962:Serbp1'
ID365405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serbp1
Ensembl Gene ENSMUSG00000036371
Gene Nameserpine1 mRNA binding protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.815) question?
Stock #IGL02962
Quality Score
Status
Chromosome6
Chromosomal Location67238176-67297736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 67267119 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 8 (G8D)
Ref Sequence ENSEMBL: ENSMUSP00000144933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042990] [ENSMUST00000203077] [ENSMUST00000203233] [ENSMUST00000203436] [ENSMUST00000204293] [ENSMUST00000204294] [ENSMUST00000205106] [ENSMUST00000205091]
Predicted Effect probably damaging
Transcript: ENSMUST00000042990
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 7.4e-42 PFAM
HABP4_PAI-RBP1 189 313 2.73e-44 SMART
low complexity region 362 384 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203054
Predicted Effect probably damaging
Transcript: ENSMUST00000203077
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 6.9e-42 PFAM
HABP4_PAI-RBP1 189 298 3.23e-46 SMART
low complexity region 347 369 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203167
Predicted Effect possibly damaging
Transcript: ENSMUST00000203233
AA Change: G8D

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144754
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 149 1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203402
Predicted Effect probably damaging
Transcript: ENSMUST00000203436
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 1e-41 PFAM
HABP4_PAI-RBP1 189 307 3.66e-45 SMART
low complexity region 356 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204034
Predicted Effect probably benign
Transcript: ENSMUST00000204135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204206
Predicted Effect probably damaging
Transcript: ENSMUST00000204293
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 9.6e-42 PFAM
HABP4_PAI-RBP1 189 292 7.04e-47 SMART
low complexity region 341 363 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204294
AA Change: G8D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145517
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 1.4e-38 PFAM
low complexity region 155 190 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205106
AA Change: G8D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144933
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 1e-38 PFAM
HABP4_PAI-RBP1 189 268 1.6e-31 SMART
low complexity region 317 339 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205091
AA Change: G8D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144772
Gene: ENSMUSG00000036371
AA Change: G8D

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 146 1.3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204810
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Serbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03131:Serbp1 APN 6 67281823 critical splice donor site probably null
R0193:Serbp1 UTSW 6 67272884 makesense probably null
R1448:Serbp1 UTSW 6 67277920 missense probably damaging 1.00
R3946:Serbp1 UTSW 6 67272220 missense probably benign 0.39
R4980:Serbp1 UTSW 6 67277888 missense probably benign 0.16
R5895:Serbp1 UTSW 6 67272886 makesense probably null
R6210:Serbp1 UTSW 6 67272867 utr 3 prime probably benign
Posted On2015-12-18