Incidental Mutation 'R7166:Prdm13'
ID 557921
Institutional Source Beutler Lab
Gene Symbol Prdm13
Ensembl Gene ENSMUSG00000040478
Gene Name PR domain containing 13
Synonyms
MMRRC Submission 045227-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7166 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 21677480-21685963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21683528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 144 (R144Q)
Ref Sequence ENSEMBL: ENSMUSP00000092761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076206] [ENSMUST00000095141]
AlphaFold E9PZZ1
Predicted Effect unknown
Transcript: ENSMUST00000076206
AA Change: R96Q
SMART Domains Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: R96Q

DomainStartEndE-ValueType
Blast:SET 2 118 4e-72 BLAST
PDB:3EP0|B 56 132 1e-8 PDB
ZnF_C2H2 137 159 3.34e-2 SMART
low complexity region 204 220 N/A INTRINSIC
low complexity region 231 252 N/A INTRINSIC
low complexity region 267 275 N/A INTRINSIC
low complexity region 302 335 N/A INTRINSIC
low complexity region 336 350 N/A INTRINSIC
low complexity region 353 370 N/A INTRINSIC
low complexity region 392 404 N/A INTRINSIC
low complexity region 546 571 N/A INTRINSIC
ZnF_C2H2 572 594 4.4e-2 SMART
ZnF_C2H2 600 622 1.92e-2 SMART
ZnF_C2H2 629 652 2.79e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000095141
AA Change: R144Q
SMART Domains Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: R144Q

DomainStartEndE-ValueType
Blast:SET 42 166 1e-73 BLAST
PDB:3EP0|B 104 180 1e-8 PDB
ZnF_C2H2 185 207 3.34e-2 SMART
low complexity region 252 268 N/A INTRINSIC
low complexity region 279 300 N/A INTRINSIC
low complexity region 315 323 N/A INTRINSIC
low complexity region 350 383 N/A INTRINSIC
low complexity region 384 398 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
low complexity region 440 452 N/A INTRINSIC
low complexity region 594 619 N/A INTRINSIC
ZnF_C2H2 620 642 4.4e-2 SMART
ZnF_C2H2 648 670 1.92e-2 SMART
ZnF_C2H2 677 700 2.79e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in the number of GABAergic and glycinergic amacrine cells, a thin retinal inner nuclear layer, altered retinal inner plexiform layer morphology, and abnormally increased spatial, temporal, and contrast sensitivities in optokinetic reponses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn T C 5: 88,615,387 (GRCm39) L272P possibly damaging Het
Ash2l C A 8: 26,317,348 (GRCm39) G335V probably damaging Het
Atp13a1 T A 8: 70,251,966 (GRCm39) probably null Het
Atp13a2 G A 4: 140,734,295 (GRCm39) R1139Q possibly damaging Het
Atxn2 T A 5: 121,934,460 (GRCm39) N886K possibly damaging Het
Celsr3 G T 9: 108,720,150 (GRCm39) C2512F probably damaging Het
Cfap221 A G 1: 119,875,843 (GRCm39) V449A probably benign Het
Cfhr2 A T 1: 139,758,839 (GRCm39) C70* probably null Het
Chfr C A 5: 110,306,671 (GRCm39) P472Q probably benign Het
Crybg2 G A 4: 133,788,193 (GRCm39) R22Q probably damaging Het
Eef2k T C 7: 120,483,995 (GRCm39) F244L probably damaging Het
Efcab11 A T 12: 99,849,614 (GRCm39) M23K Het
Eif4a3l2 A G 6: 116,528,329 (GRCm39) I69V probably benign Het
Ercc8 T A 13: 108,305,967 (GRCm39) M114K possibly damaging Het
Fam217a T C 13: 35,094,298 (GRCm39) Y487C probably benign Het
Farsb T C 1: 78,447,821 (GRCm39) N205S probably benign Het
Glra1 A G 11: 55,405,904 (GRCm39) F370S probably benign Het
Gm12258 T A 11: 58,749,299 (GRCm39) M158K Het
Gm14305 T A 2: 176,412,736 (GRCm39) H209Q probably damaging Het
Gm4924 A T 10: 82,214,035 (GRCm39) Q611L unknown Het
H4c11 A G 13: 21,919,321 (GRCm39) H19R unknown Het
Haus6 T C 4: 86,501,924 (GRCm39) E649G possibly damaging Het
Hlcs C T 16: 94,063,585 (GRCm39) D345N possibly damaging Het
Htt C A 5: 35,010,238 (GRCm39) Q1564K probably benign Het
Itpr1 G A 6: 108,355,151 (GRCm39) V481I probably benign Het
Jak3 T C 8: 72,134,960 (GRCm39) I531T probably damaging Het
Kng1 T A 16: 22,898,428 (GRCm39) H609Q probably benign Het
Mdn1 T A 4: 32,746,446 (GRCm39) S4131T probably damaging Het
Npnt A G 3: 132,653,889 (GRCm39) S31P probably damaging Het
Or1r1 A T 11: 73,875,121 (GRCm39) F104L possibly damaging Het
Or4c100 A T 2: 88,355,990 (GRCm39) Q21L possibly damaging Het
Or8h8 T A 2: 86,753,092 (GRCm39) K261N probably damaging Het
Paxx A T 2: 25,350,238 (GRCm39) L123Q probably damaging Het
Rab2b C A 14: 52,516,802 (GRCm39) probably benign Het
Rnf207 A G 4: 152,396,237 (GRCm39) I509T probably damaging Het
Ropn1l T C 15: 31,453,655 (GRCm39) Q12R Het
Ryr3 T G 2: 112,705,373 (GRCm39) Y847S probably damaging Het
Slc1a6 A T 10: 78,648,646 (GRCm39) T456S possibly damaging Het
Slc26a2 A T 18: 61,331,901 (GRCm39) M510K possibly damaging Het
Slc5a9 T C 4: 111,741,036 (GRCm39) T537A probably benign Het
Slc9b2 T C 3: 135,031,939 (GRCm39) Y132H unknown Het
Sltm T C 9: 70,492,132 (GRCm39) L725S probably damaging Het
Spz1 A G 13: 92,712,435 (GRCm39) C14R probably benign Het
Srrm4 T A 5: 116,609,301 (GRCm39) Q172L unknown Het
Synj2bp T C 12: 81,551,289 (GRCm39) D92G probably benign Het
Tmem169 A C 1: 72,340,229 (GRCm39) T220P probably benign Het
Ttn T A 2: 76,718,372 (GRCm39) I7270F unknown Het
Txndc16 T G 14: 45,420,611 (GRCm39) N137H probably benign Het
Ubr5 A G 15: 37,976,389 (GRCm39) Y2499H Het
Ugt2b38 T C 5: 87,558,305 (GRCm39) D452G probably damaging Het
Zfp12 T A 5: 143,231,257 (GRCm39) I560N possibly damaging Het
Zfp60 A G 7: 27,448,937 (GRCm39) K535R possibly damaging Het
Zfp960 T A 17: 17,308,761 (GRCm39) C492S probably damaging Het
Other mutations in Prdm13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02940:Prdm13 APN 4 21,683,421 (GRCm39) nonsense probably null
IGL03211:Prdm13 APN 4 21,678,492 (GRCm39) missense probably damaging 1.00
R0363:Prdm13 UTSW 4 21,679,737 (GRCm39) missense unknown
R0512:Prdm13 UTSW 4 21,678,490 (GRCm39) missense probably damaging 1.00
R0726:Prdm13 UTSW 4 21,683,914 (GRCm39) missense unknown
R1056:Prdm13 UTSW 4 21,678,544 (GRCm39) missense probably damaging 1.00
R1433:Prdm13 UTSW 4 21,678,909 (GRCm39) missense probably damaging 1.00
R2005:Prdm13 UTSW 4 21,685,695 (GRCm39) utr 5 prime probably benign
R2292:Prdm13 UTSW 4 21,683,914 (GRCm39) missense unknown
R2382:Prdm13 UTSW 4 21,678,277 (GRCm39) missense possibly damaging 0.73
R3620:Prdm13 UTSW 4 21,683,532 (GRCm39) missense unknown
R4039:Prdm13 UTSW 4 21,685,774 (GRCm39) utr 5 prime probably benign
R4417:Prdm13 UTSW 4 21,678,756 (GRCm39) missense probably benign 0.39
R4453:Prdm13 UTSW 4 21,679,464 (GRCm39) missense unknown
R4850:Prdm13 UTSW 4 21,678,243 (GRCm39) missense possibly damaging 0.92
R4864:Prdm13 UTSW 4 21,685,543 (GRCm39) missense unknown
R4934:Prdm13 UTSW 4 21,678,223 (GRCm39) utr 3 prime probably benign
R5138:Prdm13 UTSW 4 21,679,507 (GRCm39) missense unknown
R5304:Prdm13 UTSW 4 21,678,984 (GRCm39) missense probably damaging 1.00
R5394:Prdm13 UTSW 4 21,679,455 (GRCm39) missense unknown
R5909:Prdm13 UTSW 4 21,683,894 (GRCm39) missense unknown
R5964:Prdm13 UTSW 4 21,683,852 (GRCm39) nonsense probably null
R6261:Prdm13 UTSW 4 21,678,366 (GRCm39) missense probably damaging 1.00
R7175:Prdm13 UTSW 4 21,679,473 (GRCm39) missense unknown
R7549:Prdm13 UTSW 4 21,679,072 (GRCm39) missense probably damaging 1.00
R7966:Prdm13 UTSW 4 21,679,932 (GRCm39) missense unknown
R8319:Prdm13 UTSW 4 21,679,327 (GRCm39) missense unknown
R8326:Prdm13 UTSW 4 21,679,557 (GRCm39) missense unknown
R8701:Prdm13 UTSW 4 21,678,615 (GRCm39) missense probably damaging 1.00
R8924:Prdm13 UTSW 4 21,679,125 (GRCm39) missense possibly damaging 0.94
R8947:Prdm13 UTSW 4 21,678,817 (GRCm39) missense probably damaging 1.00
R9165:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
R9168:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
R9170:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
R9171:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
Z1176:Prdm13 UTSW 4 21,679,518 (GRCm39) missense unknown
Z1177:Prdm13 UTSW 4 21,679,623 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTGTTCACCTTCCACAATCCAG -3'
(R):5'- CAACATCCCAATGACCTTGTAAGG -3'

Sequencing Primer
(F):5'- CAGGAGAACTGGACTCTACTCTTG -3'
(R):5'- TGTAAGGAAGATACTTTTGCTTTGTC -3'
Posted On 2019-06-26