Incidental Mutation 'R0575:Prob1'
ID 201511
Institutional Source Beutler Lab
Gene Symbol Prob1
Ensembl Gene ENSMUSG00000073600
Gene Name proline rich basic protein 1
Synonyms LOC381148, Gm1614
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R0575 (G1)
Quality Score 39
Status Validated
Chromosome 18
Chromosomal Location 35783400-35788274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35787774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 160 (D160G)
Ref Sequence ENSEMBL: ENSMUSP00000140465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000097619] [ENSMUST00000190196]
AlphaFold A0A087WR45
Predicted Effect probably benign
Transcript: ENSMUST00000025209
SMART Domains Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352

DomainStartEndE-ValueType
Pfam:SPATA24 10 191 1.5e-83 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097619
AA Change: D156G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: D156G

DomainStartEndE-ValueType
low complexity region 78 102 N/A INTRINSIC
low complexity region 142 155 N/A INTRINSIC
low complexity region 207 223 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
low complexity region 536 553 N/A INTRINSIC
low complexity region 829 848 N/A INTRINSIC
Pfam:DUF4585 862 931 4.6e-27 PFAM
low complexity region 989 1002 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186951
Predicted Effect possibly damaging
Transcript: ENSMUST00000190196
AA Change: D160G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: D160G

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
low complexity region 146 159 N/A INTRINSIC
low complexity region 211 227 N/A INTRINSIC
low complexity region 381 400 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
low complexity region 833 852 N/A INTRINSIC
Pfam:DUF4585 864 936 7.5e-27 PFAM
low complexity region 993 1006 N/A INTRINSIC
Meta Mutation Damage Score 0.0836 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Prob1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Prob1 APN 18 35,786,386 (GRCm39) missense possibly damaging 0.91
IGL02352:Prob1 APN 18 35,785,893 (GRCm39) missense possibly damaging 0.53
IGL02359:Prob1 APN 18 35,785,893 (GRCm39) missense possibly damaging 0.53
IGL02823:Prob1 APN 18 35,785,800 (GRCm39) missense possibly damaging 0.86
IGL03003:Prob1 APN 18 35,786,428 (GRCm39) missense possibly damaging 0.73
IGL03390:Prob1 APN 18 35,787,192 (GRCm39) missense probably benign 0.03
R0257:Prob1 UTSW 18 35,786,092 (GRCm39) missense possibly damaging 0.53
R0421:Prob1 UTSW 18 35,786,083 (GRCm39) missense possibly damaging 0.70
R0457:Prob1 UTSW 18 35,785,539 (GRCm39) missense probably damaging 0.98
R0485:Prob1 UTSW 18 35,786,878 (GRCm39) missense possibly damaging 0.53
R1056:Prob1 UTSW 18 35,786,663 (GRCm39) missense probably benign
R1147:Prob1 UTSW 18 35,787,859 (GRCm39) nonsense probably null
R1334:Prob1 UTSW 18 35,786,305 (GRCm39) missense possibly damaging 0.53
R1727:Prob1 UTSW 18 35,787,364 (GRCm39) missense possibly damaging 0.73
R1753:Prob1 UTSW 18 35,786,305 (GRCm39) missense possibly damaging 0.53
R1826:Prob1 UTSW 18 35,786,628 (GRCm39) missense possibly damaging 0.72
R1895:Prob1 UTSW 18 35,785,942 (GRCm39) missense possibly damaging 0.53
R1937:Prob1 UTSW 18 35,787,279 (GRCm39) missense possibly damaging 0.53
R2170:Prob1 UTSW 18 35,787,790 (GRCm39) missense probably benign 0.18
R3435:Prob1 UTSW 18 35,787,294 (GRCm39) missense possibly damaging 0.72
R4749:Prob1 UTSW 18 35,785,869 (GRCm39) missense possibly damaging 0.91
R4968:Prob1 UTSW 18 35,785,605 (GRCm39) missense probably damaging 0.98
R5107:Prob1 UTSW 18 35,785,989 (GRCm39) missense possibly damaging 0.53
R5602:Prob1 UTSW 18 35,787,079 (GRCm39) missense possibly damaging 0.96
R5646:Prob1 UTSW 18 35,787,167 (GRCm39) missense probably benign 0.18
R6035:Prob1 UTSW 18 35,787,835 (GRCm39) missense probably benign 0.18
R6747:Prob1 UTSW 18 35,788,207 (GRCm39) missense probably damaging 0.97
R6954:Prob1 UTSW 18 35,787,321 (GRCm39) missense probably benign
R7061:Prob1 UTSW 18 35,787,553 (GRCm39) missense probably benign 0.18
R7292:Prob1 UTSW 18 35,787,603 (GRCm39) missense possibly damaging 0.93
R7296:Prob1 UTSW 18 35,786,352 (GRCm39) missense possibly damaging 0.53
R7566:Prob1 UTSW 18 35,788,038 (GRCm39) missense probably benign 0.33
R7723:Prob1 UTSW 18 35,785,942 (GRCm39) missense possibly damaging 0.53
R7787:Prob1 UTSW 18 35,785,285 (GRCm39) missense possibly damaging 0.73
R7798:Prob1 UTSW 18 35,786,397 (GRCm39) missense possibly damaging 0.93
R8048:Prob1 UTSW 18 35,786,604 (GRCm39) missense probably benign 0.00
R8101:Prob1 UTSW 18 35,786,286 (GRCm39) missense possibly damaging 0.85
R8260:Prob1 UTSW 18 35,787,210 (GRCm39) missense possibly damaging 0.86
R8676:Prob1 UTSW 18 35,787,039 (GRCm39) missense possibly damaging 0.53
R9304:Prob1 UTSW 18 35,787,708 (GRCm39) missense probably damaging 1.00
R9440:Prob1 UTSW 18 35,786,218 (GRCm39) missense possibly damaging 0.53
X0067:Prob1 UTSW 18 35,786,144 (GRCm39) missense possibly damaging 0.70
Z1088:Prob1 UTSW 18 35,785,822 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TCGATCTGACGTTTCGGCACAG -3'
(R):5'- GCGCTTTAAGACGCTTTGACCC -3'

Sequencing Primer
(F):5'- CACAGTGCGGGGTCTAAC -3'
(R):5'- CGTCAGCGCCCAGAATAG -3'
Posted On 2014-06-16