Incidental Mutation 'R9295:Serbp1'
ID 704545
Institutional Source Beutler Lab
Gene Symbol Serbp1
Ensembl Gene ENSMUSG00000036371
Gene Name serpine1 mRNA binding protein 1
Synonyms 9330147J08Rik, 1200009K13Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.631) question?
Stock # R9295 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 67243963-67266286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 67248208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 114 (D114Y)
Ref Sequence ENSEMBL: ENSMUSP00000039110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042990] [ENSMUST00000203077] [ENSMUST00000203233] [ENSMUST00000203436] [ENSMUST00000204293] [ENSMUST00000204294] [ENSMUST00000205091] [ENSMUST00000205106]
AlphaFold Q9CY58
Predicted Effect probably damaging
Transcript: ENSMUST00000042990
AA Change: D114Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371
AA Change: D114Y

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 possibly damaging
Transcript: ENSMUST00000203077
AA Change: D114Y

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371
AA Change: D114Y

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 probably damaging
Transcript: ENSMUST00000203233
AA Change: D114Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144754
Gene: ENSMUSG00000036371
AA Change: D114Y

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 149 1e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203436
AA Change: D114Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371
AA Change: D114Y

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
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000204293
AA Change: D114Y

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371
AA Change: D114Y

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: D114Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145517
Gene: ENSMUSG00000036371
AA Change: D114Y

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 1.4e-38 PFAM
low complexity region 155 190 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205091
AA Change: D114Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144772
Gene: ENSMUSG00000036371
AA Change: D114Y

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 146 1.3e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205106
AA Change: D114Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144933
Gene: ENSMUSG00000036371
AA Change: D114Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,116 (GRCm39) V7E probably benign Het
Adam17 A G 12: 21,399,938 (GRCm39) V156A probably benign Het
Ankrd6 A T 4: 32,822,160 (GRCm39) V236E probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
C2cd3 C A 7: 100,081,734 (GRCm39) D1125E Het
Cacna2d2 A G 9: 107,386,419 (GRCm39) E182G probably benign Het
Cct3 A G 3: 88,212,430 (GRCm39) K139E probably benign Het
Cd96 G T 16: 45,938,244 (GRCm39) Q74K probably benign Het
Cdk5rap1 A T 2: 154,194,186 (GRCm39) I373N probably damaging Het
Cep350 A T 1: 155,738,051 (GRCm39) Y2597* probably null Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Clcn1 G A 6: 42,290,883 (GRCm39) G919E probably benign Het
Col6a4 G A 9: 105,957,734 (GRCm39) A30V probably damaging Het
Copa T C 1: 171,939,823 (GRCm39) C655R probably damaging Het
Cpt1a T A 19: 3,428,441 (GRCm39) V605E probably damaging Het
Ddx46 T C 13: 55,811,599 (GRCm39) I600T possibly damaging Het
Dhx9 C A 1: 153,340,673 (GRCm39) V656L probably damaging Het
Dnhd1 T A 7: 105,363,348 (GRCm39) M3970K probably benign Het
Ercc5 G T 1: 44,198,017 (GRCm39) V145F probably damaging Het
Erv3 T C 2: 131,697,979 (GRCm39) T127A possibly damaging Het
Fcer1a T C 1: 173,050,174 (GRCm39) Y172C probably damaging Het
Gabra1 A G 11: 42,044,217 (GRCm39) M167T probably damaging Het
Ggt1 A G 10: 75,421,743 (GRCm39) H530R probably benign Het
Gli2 C A 1: 118,764,996 (GRCm39) V1052L probably damaging Het
Gm4491 A C 14: 57,351,140 (GRCm39) F84C unknown Het
Irf2bp1 C T 7: 18,739,740 (GRCm39) T460I probably benign Het
Klf3 A G 5: 64,980,240 (GRCm39) Y187C possibly damaging Het
Krt80 T C 15: 101,249,652 (GRCm39) E287G probably benign Het
Lama4 G T 10: 38,948,747 (GRCm39) V837F probably damaging Het
Lrig3 G T 10: 125,850,722 (GRCm39) C1096F probably benign Het
Mtrr T C 13: 68,719,258 (GRCm39) R328G possibly damaging Het
Nln TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC 13: 104,186,924 (GRCm39) probably null Het
Obsl1 A T 1: 75,476,721 (GRCm39) D744E probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4x13 G A 2: 90,231,441 (GRCm39) M145I probably benign Het
Pde4b A G 4: 102,112,478 (GRCm39) T21A probably damaging Het
Phf20l1 G A 15: 66,513,752 (GRCm39) G1003D probably damaging Het
Phtf1 A G 3: 103,904,893 (GRCm39) T514A probably benign Het
Phykpl A G 11: 51,482,231 (GRCm39) E115G possibly damaging Het
Pramel20 A G 4: 143,298,704 (GRCm39) T216A possibly damaging Het
Pxmp2 C A 5: 110,433,944 (GRCm39) probably benign Het
Reln A G 5: 22,209,209 (GRCm39) L1123P possibly damaging Het
Rusc2 T C 4: 43,416,382 (GRCm39) S563P probably damaging Het
Secisbp2 T G 13: 51,808,483 (GRCm39) S83A probably damaging Het
Sema3c T A 5: 17,932,495 (GRCm39) M666K probably benign Het
Sh3d21 T A 4: 126,045,276 (GRCm39) T468S possibly damaging Het
Shroom3 T A 5: 93,098,478 (GRCm39) D1319E probably benign Het
Skida1 T C 2: 18,051,386 (GRCm39) R502G unknown Het
Slc25a12 C A 2: 71,128,986 (GRCm39) G314C possibly damaging Het
Smg8 A G 11: 86,968,789 (GRCm39) V989A probably benign Het
Spon2 G A 5: 33,373,844 (GRCm39) P156S probably damaging Het
Stx1a A G 5: 135,066,370 (GRCm39) N50S probably benign Het
Tmem151b C A 17: 45,857,806 (GRCm39) V147L probably benign Het
Trim12c C T 7: 103,990,391 (GRCm39) G362D unknown Het
Tsr1 T C 11: 74,799,135 (GRCm39) V772A probably damaging Het
Tti2 A T 8: 31,643,550 (GRCm39) K222* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r60 A G 7: 5,547,218 (GRCm39) M294T probably null Het
Vmn2r6 T C 3: 64,463,484 (GRCm39) E450G probably benign Het
Vmn2r60 T A 7: 41,785,955 (GRCm39) F253I probably benign Het
Wnk4 A T 11: 101,160,078 (GRCm39) D649V probably damaging Het
Zfhx4 T C 3: 5,394,525 (GRCm39) S1040P probably benign Het
Zfp112 C T 7: 23,824,805 (GRCm39) R262C probably benign Het
Zfp287 T A 11: 62,606,115 (GRCm39) D264V probably benign Het
Zfp46 T C 4: 136,017,876 (GRCm39) C237R probably damaging Het
Zfp773 C T 7: 7,135,694 (GRCm39) E301K probably benign Het
Zswim2 A C 2: 83,748,304 (GRCm39) V292G probably benign Het
Other mutations in Serbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02962:Serbp1 APN 6 67,244,103 (GRCm39) missense probably damaging 1.00
IGL03131:Serbp1 APN 6 67,258,807 (GRCm39) critical splice donor site probably null
R0193:Serbp1 UTSW 6 67,249,868 (GRCm39) makesense probably null
R1448:Serbp1 UTSW 6 67,254,904 (GRCm39) missense probably damaging 1.00
R3946:Serbp1 UTSW 6 67,249,204 (GRCm39) missense probably benign 0.39
R4980:Serbp1 UTSW 6 67,254,872 (GRCm39) missense probably benign 0.16
R5895:Serbp1 UTSW 6 67,249,870 (GRCm39) makesense probably null
R6210:Serbp1 UTSW 6 67,249,851 (GRCm39) utr 3 prime probably benign
R8702:Serbp1 UTSW 6 67,244,156 (GRCm39) missense probably damaging 1.00
R9191:Serbp1 UTSW 6 67,249,838 (GRCm39) missense probably benign
R9441:Serbp1 UTSW 6 67,244,025 (GRCm39) start gained probably benign
R9461:Serbp1 UTSW 6 67,244,313 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TTCTGTGCCAGTTGTAGAATGC -3'
(R):5'- AAGTAATCACTCCACCTACTCTGTC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- ACTCTGTCCAACTTACAGTTTTATG -3'
Posted On 2022-03-25