Incidental Mutation 'R5964:Prdm13'
ID 471933
Institutional Source Beutler Lab
Gene Symbol Prdm13
Ensembl Gene ENSMUSG00000040478
Gene Name PR domain containing 13
Synonyms
MMRRC Submission 044149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5964 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 21677480-21685963 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 21683852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 140 (Q140*)
Ref Sequence ENSEMBL: ENSMUSP00000092761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076206] [ENSMUST00000095141]
AlphaFold E9PZZ1
Predicted Effect probably null
Transcript: ENSMUST00000076206
AA Change: Q92*
SMART Domains Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: Q92*

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 probably null
Transcript: ENSMUST00000095141
AA Change: Q140*
SMART Domains Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: Q140*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149516
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 96% (87/91)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,250,874 (GRCm39) Q581* probably null Het
Agl A G 3: 116,587,423 (GRCm39) V44A probably damaging Het
Alpk3 T A 7: 80,742,008 (GRCm39) D608E possibly damaging Het
Aspm C A 1: 139,382,965 (GRCm39) probably benign Het
Bbs2 T C 8: 94,794,995 (GRCm39) N692S probably benign Het
Bend4 A G 5: 67,575,161 (GRCm39) I240T probably benign Het
Casp8 G T 1: 58,872,895 (GRCm39) R277L possibly damaging Het
Ccdc61 A T 7: 18,634,865 (GRCm39) I123N probably damaging Het
Ccr9 T G 9: 123,608,499 (GRCm39) I60M probably benign Het
Cd163 T A 6: 124,303,531 (GRCm39) W1066R probably benign Het
Cd226 A T 18: 89,225,307 (GRCm39) H68L probably benign Het
Cdkn3 T A 14: 47,004,674 (GRCm39) C79S probably null Het
Cnnm1 A T 19: 43,458,162 (GRCm39) E658V probably benign Het
Cog7 T C 7: 121,555,252 (GRCm39) R304G probably damaging Het
Cpt1a T A 19: 3,415,760 (GRCm39) V286E possibly damaging Het
Creg2 C A 1: 39,664,122 (GRCm39) R212L probably benign Het
Cyp26a1 T G 19: 37,688,410 (GRCm39) S311A probably damaging Het
Cyp2b10 T C 7: 25,625,648 (GRCm39) Y484H probably benign Het
Cyp3a44 T A 5: 145,725,277 (GRCm39) Y308F possibly damaging Het
Dlg5 A G 14: 24,214,157 (GRCm39) V744A probably benign Het
Dlgap2 T A 8: 14,777,128 (GRCm39) Y124* probably null Het
Dnah3 T C 7: 119,522,103 (GRCm39) D4030G probably benign Het
Dnah5 A G 15: 28,458,730 (GRCm39) T4456A possibly damaging Het
Dtx2 T A 5: 136,052,553 (GRCm39) V347D probably benign Het
Gigyf2 C T 1: 87,334,889 (GRCm39) T294M probably damaging Het
Gli3 C G 13: 15,900,747 (GRCm39) S1378* probably null Het
Gnao1 G A 8: 94,693,627 (GRCm39) D337N probably benign Het
Gp2 T A 7: 119,048,352 (GRCm39) Q422L probably benign Het
Ifit1 T A 19: 34,625,869 (GRCm39) M335K possibly damaging Het
Ism1 T C 2: 139,520,677 (GRCm39) S30P probably benign Het
Itgax A G 7: 127,739,619 (GRCm39) D677G probably damaging Het
Kansl1l G A 1: 66,765,081 (GRCm39) A442V probably damaging Het
Kif13a T C 13: 46,925,000 (GRCm39) I311M probably damaging Het
Lrrc37 A G 11: 103,432,946 (GRCm39) S1232P possibly damaging Het
Lsm14b T A 2: 179,673,218 (GRCm39) S84R probably benign Het
Lzts3 A G 2: 130,478,208 (GRCm39) Y297H probably damaging Het
Map4k3 A G 17: 80,952,191 (GRCm39) I205T probably damaging Het
Matn2 A T 15: 34,410,311 (GRCm39) N501I probably damaging Het
Mctp2 T C 7: 71,752,925 (GRCm39) E776G probably damaging Het
Mex3d A T 10: 80,218,421 (GRCm39) N265K probably damaging Het
Myo5a A G 9: 75,111,115 (GRCm39) T1534A probably benign Het
Ncoa7 T C 10: 30,580,632 (GRCm39) M35V probably damaging Het
Nek4 G A 14: 30,679,036 (GRCm39) probably null Het
Ngrn T C 7: 79,911,681 (GRCm39) probably null Het
Nlrp1a T A 11: 71,013,846 (GRCm39) Q468L probably benign Het
Or11g27 T A 14: 50,771,655 (GRCm39) M262K probably damaging Het
Or5b98 A C 19: 12,931,895 (GRCm39) Q314P probably benign Het
Phtf2 T C 5: 20,980,932 (GRCm39) D433G probably damaging Het
Prtg G A 9: 72,799,536 (GRCm39) G778E probably benign Het
Pum3 T C 19: 27,397,451 (GRCm39) E308G probably damaging Het
Pwp1 T G 10: 85,718,750 (GRCm39) F306V probably damaging Het
Rab24 A T 13: 55,469,389 (GRCm39) Y27N probably damaging Het
Rnf215 T C 11: 4,085,898 (GRCm39) F126L probably benign Het
Samd13 A T 3: 146,386,451 (GRCm39) probably benign Het
Serac1 T A 17: 6,115,324 (GRCm39) H213L probably benign Het
Slc45a3 A G 1: 131,905,811 (GRCm39) E278G probably damaging Het
Slit3 C T 11: 35,591,063 (GRCm39) R1292C probably damaging Het
Slx4 A T 16: 3,818,815 (GRCm39) probably null Het
Smarca4 C A 9: 21,558,726 (GRCm39) T631K probably benign Het
Snx16 C T 3: 10,499,541 (GRCm39) R163Q possibly damaging Het
Stk40 T C 4: 126,022,688 (GRCm39) V140A probably damaging Het
Tcf12 A T 9: 71,775,522 (GRCm39) D409E probably damaging Het
Tgfbr2 G T 9: 115,939,323 (GRCm39) T168K possibly damaging Het
Ticam1 G T 17: 56,578,703 (GRCm39) H131N probably damaging Het
Ttn C A 2: 76,660,232 (GRCm39) R7458I possibly damaging Het
Ttn C A 2: 76,543,855 (GRCm39) E31298* probably null Het
Usp7 A G 16: 8,529,966 (GRCm39) V133A possibly damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Wdfy4 T C 14: 32,827,968 (GRCm39) E1118G probably damaging Het
Zfp81 G C 17: 33,555,819 (GRCm39) P3A probably damaging Het
Znhit6 A G 3: 145,282,688 (GRCm39) K21R 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
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
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'- GCTGGATAACTTGGAATCTCATCC -3'
(R):5'- CCGTGGGCTGTAGGATAAAC -3'

Sequencing Primer
(F):5'- GATAACTTGGAATCTCATCCTTCATC -3'
(R):5'- GCTGTAGGATAAACTTTCCTCTGAGC -3'
Posted On 2017-03-31