Incidental Mutation 'R8319:Prdm13'
ID 641845
Institutional Source Beutler Lab
Gene Symbol Prdm13
Ensembl Gene ENSMUSG00000040478
Gene Name PR domain containing 13
Synonyms
MMRRC Submission 067856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8319 (G1)
Quality Score 159.009
Status Not validated
Chromosome 4
Chromosomal Location 21677480-21685963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21679327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 388 (H388N)
Ref Sequence ENSEMBL: ENSMUSP00000092761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076206] [ENSMUST00000095141]
AlphaFold E9PZZ1
Predicted Effect unknown
Transcript: ENSMUST00000076206
AA Change: H340N
SMART Domains Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: H340N

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: H388N
SMART Domains Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: H388N

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,486 (GRCm39) D115E probably benign Het
Abcc1 T A 16: 14,214,315 (GRCm39) L197Q probably damaging Het
Adamts14 T G 10: 61,057,706 (GRCm39) N547T probably benign Het
Ampd3 T A 7: 110,394,982 (GRCm39) S301R probably benign Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Atl1 A T 12: 70,002,093 (GRCm39) T351S probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cacna1c T C 6: 118,614,735 (GRCm39) I1315V Het
Col12a1 C T 9: 79,555,979 (GRCm39) G2013R probably damaging Het
Cpne2 A G 8: 95,280,040 (GRCm39) D153G probably benign Het
Cryzl1 T C 16: 91,489,251 (GRCm39) S205G probably benign Het
Cux1 C T 5: 136,594,251 (GRCm39) A5T probably benign Het
Ddx60 T C 8: 62,395,669 (GRCm39) probably null Het
Dnajc13 G A 9: 104,067,590 (GRCm39) P1190S probably benign Het
Fbxw7 T A 3: 84,881,859 (GRCm39) V526E Het
Fig4 C A 10: 41,139,097 (GRCm39) G369C probably damaging Het
Gabra1 C T 11: 42,026,315 (GRCm39) A326T probably damaging Het
Gbe1 G A 16: 70,284,964 (GRCm39) G429S probably benign Het
Gtf3c5 A T 2: 28,460,506 (GRCm39) H364Q probably benign Het
Hcfc2 T A 10: 82,574,201 (GRCm39) I125N probably damaging Het
Hnrnpul1 A T 7: 25,453,902 (GRCm39) D53E probably benign Het
Ift56 T A 6: 38,382,880 (GRCm39) H338Q probably damaging Het
Il18 A T 9: 50,492,818 (GRCm39) D128V possibly damaging Het
Intu T A 3: 40,608,202 (GRCm39) S71R probably damaging Het
Klhl6 T C 16: 19,775,940 (GRCm39) E206G possibly damaging Het
Lcor T A 19: 41,571,343 (GRCm39) S179T probably damaging Het
Mcub A G 3: 129,727,328 (GRCm39) F93L probably damaging Het
Mdga2 T C 12: 67,267,803 (GRCm39) Y5C unknown Het
Naip1 C A 13: 100,565,721 (GRCm39) V354L probably benign Het
Naip5 A G 13: 100,358,167 (GRCm39) V1023A probably benign Het
Ndufaf1 A G 2: 119,490,568 (GRCm39) L166P probably damaging Het
Ninl A T 2: 150,801,827 (GRCm39) L147H probably damaging Het
Or4c12 A G 2: 89,774,024 (GRCm39) V145A possibly damaging Het
Or51b17 A G 7: 103,542,636 (GRCm39) I102T probably damaging Het
Otogl C T 10: 107,689,127 (GRCm39) probably null Het
Otulin AT ATT 15: 27,606,404 (GRCm39) probably null Het
Phf11b A C 14: 59,576,146 (GRCm39) L30R probably damaging Het
Pwwp2b T C 7: 138,835,099 (GRCm39) V180A probably damaging Het
Reep4 T A 14: 70,783,951 (GRCm39) S23T probably damaging Het
Rusc2 T A 4: 43,425,378 (GRCm39) L1161Q probably damaging Het
Scgb1b3 G A 7: 31,075,404 (GRCm39) probably null Het
Scn10a G T 9: 119,499,455 (GRCm39) N279K probably benign Het
Smurf2 A G 11: 106,715,578 (GRCm39) L643S probably damaging Het
Sox12 G A 2: 152,239,192 (GRCm39) P143S unknown Het
Specc1 C T 11: 62,009,501 (GRCm39) T339I possibly damaging Het
Tas2r139 T C 6: 42,118,720 (GRCm39) V284A probably benign Het
Thumpd3 T A 6: 113,040,107 (GRCm39) C330* probably null Het
Ttn A G 2: 76,537,298 (GRCm39) S34877P possibly damaging Het
Zfp568 T C 7: 29,697,629 (GRCm39) S104P possibly damaging Het
Zfp933 G A 4: 147,912,910 (GRCm39) H50Y possibly 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
R7166:Prdm13 UTSW 4 21,683,528 (GRCm39) missense unknown
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
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'- GACTCGGGGTATTTGAGCAG -3'
(R):5'- AATTCCTGGGGATAGTGGGC -3'

Sequencing Primer
(F):5'- TAGAGCAGGTCTCCGCTGTAC -3'
(R):5'- TGCCATTCTACCCAGGCGTG -3'
Posted On 2020-07-28