Incidental Mutation 'R9461:Serbp1'
ID 714863
Institutional Source Beutler Lab
Gene Symbol Serbp1
Ensembl Gene ENSMUSG00000036371
Gene Name serpine1 mRNA binding protein 1
Synonyms 9330147J08Rik, 1200009K13Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.631) question?
Stock # R9461 (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 A at 67244313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 78 (R78H)
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 benign
Transcript: ENSMUST00000042990
AA Change: R78H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371
AA Change: R78H

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 probably benign
Transcript: ENSMUST00000203077
AA Change: R78H

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371
AA Change: R78H

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 benign
Transcript: ENSMUST00000203233
AA Change: R78H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000144754
Gene: ENSMUSG00000036371
AA Change: R78H

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 149 1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203436
AA Change: R78H

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371
AA Change: R78H

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 probably benign
Transcript: ENSMUST00000204135
Predicted Effect probably benign
Transcript: ENSMUST00000204293
AA Change: R78H

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371
AA Change: R78H

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 benign
Transcript: ENSMUST00000204294
AA Change: R78H

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000145517
Gene: ENSMUSG00000036371
AA Change: R78H

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 152 1.4e-38 PFAM
low complexity region 155 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205091
AA Change: R78H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144772
Gene: ENSMUSG00000036371
AA Change: R78H

DomainStartEndE-ValueType
Pfam:IHABP4_N 5 146 1.3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205106
AA Change: R78H

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144933
Gene: ENSMUSG00000036371
AA Change: R78H

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: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Abhd18 A T 3: 40,859,319 (GRCm39) probably null Het
Aox1 G A 1: 58,116,736 (GRCm39) probably null Het
Arpp21 C A 9: 111,965,704 (GRCm39) R422L probably damaging Het
Ccdc190 G A 1: 169,761,489 (GRCm39) G197D probably benign Het
Cdc42bpa G T 1: 179,969,861 (GRCm39) L1243F probably damaging Het
Ces2b T A 8: 105,564,011 (GRCm39) F462I probably benign Het
Cfap45 A G 1: 172,362,894 (GRCm39) E295G possibly damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Col24a1 G T 3: 145,186,879 (GRCm39) E1227* probably null Het
Col5a1 A T 2: 27,922,616 (GRCm39) D1717V unknown Het
Dab2 T C 15: 6,460,435 (GRCm39) S448P possibly damaging Het
Dnajb1 T C 8: 84,335,173 (GRCm39) probably null Het
Dock9 C T 14: 121,842,601 (GRCm39) G1223D probably benign Het
Elp2 A G 18: 24,765,869 (GRCm39) R670G probably damaging Het
Eppk1 T C 15: 75,994,668 (GRCm39) I738V probably benign Het
Gas2l2 T A 11: 83,313,031 (GRCm39) R760S probably damaging Het
H1f7 C T 15: 98,155,138 (GRCm39) A4T probably damaging Het
Kif17 G A 4: 138,005,253 (GRCm39) V273I probably damaging Het
Klhdc4 T C 8: 122,526,224 (GRCm39) D336G probably damaging Het
Lmod2 A G 6: 24,603,568 (GRCm39) N181S probably benign Het
Lrp8 G A 4: 107,700,515 (GRCm39) G151D possibly damaging Het
Mb21d2 C T 16: 28,647,261 (GRCm39) V238M probably damaging Het
Mfsd4b3-ps T G 10: 39,823,247 (GRCm39) I338L probably benign Het
Nkain2 C T 10: 32,766,125 (GRCm39) A112T unknown Het
Or14c41 T A 7: 86,235,247 (GRCm39) Y255N possibly damaging Het
Or52n2b T A 7: 104,565,583 (GRCm39) I307F probably benign Het
Or5b12b T A 19: 12,861,875 (GRCm39) V210E possibly damaging Het
Or5i1 A G 2: 87,612,883 (GRCm39) I2V probably benign Het
Pacs2 A G 12: 113,010,727 (GRCm39) I126V probably benign Het
Phyhipl T C 10: 70,395,243 (GRCm39) Y321C possibly damaging Het
Ppm1k T C 6: 57,487,720 (GRCm39) S368G probably damaging Het
Ranbp6 T C 19: 29,787,163 (GRCm39) D1063G possibly damaging Het
Sars2 T C 7: 28,449,438 (GRCm39) M322T probably benign Het
Sfxn2 T A 19: 46,574,192 (GRCm39) N127K probably damaging Het
Sgsm1 A T 5: 113,423,898 (GRCm39) probably null Het
Slc22a22 T C 15: 57,108,342 (GRCm39) Y491C probably damaging Het
Slc22a22 T A 15: 57,127,052 (GRCm39) I6F probably damaging Het
Smpd1 C T 7: 105,204,789 (GRCm39) L223F probably damaging Het
Spem1 T C 11: 69,711,741 (GRCm39) K308E probably benign Het
Spsb1 A T 4: 149,990,907 (GRCm39) C220* probably null Het
Syngap1 T A 17: 27,173,962 (GRCm39) S190R possibly damaging Het
Tars3 T C 7: 65,339,719 (GRCm39) S705P possibly damaging Het
Tbc1d16 G T 11: 119,044,781 (GRCm39) F553L probably damaging Het
Thbs2 A G 17: 14,910,435 (GRCm39) Y55H probably damaging Het
Tmem220 T C 11: 66,924,979 (GRCm39) I138T possibly damaging Het
Tut7 G A 13: 59,963,512 (GRCm39) T282I probably damaging Het
Txnl1 T C 18: 63,810,050 (GRCm39) N131S probably benign Het
Vat1 T C 11: 101,353,846 (GRCm39) T175A possibly damaging Het
Veph1 T A 3: 66,029,066 (GRCm39) D651V probably benign Het
Zfp281 T A 1: 136,554,500 (GRCm39) S493T probably benign Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L 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
R9295:Serbp1 UTSW 6 67,248,208 (GRCm39) missense probably damaging 0.98
R9441:Serbp1 UTSW 6 67,244,025 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCGACCAGCTATTTGACGAC -3'
(R):5'- CCATTGTGGGACAAGATGGC -3'

Sequencing Primer
(F):5'- ACGAATCGGACCCTTTCGAG -3'
(R):5'- ACTTGGGACCAGCCACGTTC -3'
Posted On 2022-06-15