Incidental Mutation 'R5320:Prdm11'
ID 406028
Institutional Source Beutler Lab
Gene Symbol Prdm11
Ensembl Gene ENSMUSG00000075028
Gene Name PR domain containing 11
Synonyms 8030443D09Rik
MMRRC Submission 042903-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R5320 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 92802363-92876512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92843226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 78 (S78A)
Ref Sequence ENSEMBL: ENSMUSP00000122809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111272] [ENSMUST00000111274] [ENSMUST00000147339] [ENSMUST00000178666]
AlphaFold A2AGX3
Predicted Effect probably benign
Transcript: ENSMUST00000111272
AA Change: S30A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000106903
Gene: ENSMUSG00000075028
AA Change: S30A

DomainStartEndE-ValueType
SANT 147 217 3.94e-3 SMART
low complexity region 291 312 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111274
AA Change: S78A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106905
Gene: ENSMUSG00000075028
AA Change: S78A

DomainStartEndE-ValueType
SET 115 232 5.16e-2 SMART
low complexity region 369 380 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130441
Predicted Effect probably benign
Transcript: ENSMUST00000147339
AA Change: S78A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000122809
Gene: ENSMUSG00000075028
AA Change: S78A

DomainStartEndE-ValueType
PDB:3RAY|A 45 162 4e-80 PDB
Blast:SET 92 162 6e-41 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000178666
AA Change: S78A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136795
Gene: ENSMUSG00000075028
AA Change: S78A

DomainStartEndE-ValueType
SET 115 232 5.16e-2 SMART
low complexity region 369 380 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,526,541 (GRCm39) I581N probably damaging Het
Abcb10 A G 8: 124,697,763 (GRCm39) F187S probably benign Het
Actl11 T A 9: 107,808,203 (GRCm39) V842E possibly damaging Het
Akap12 A G 10: 4,307,291 (GRCm39) D1367G probably benign Het
Aoc1l1 T A 6: 48,952,474 (GRCm39) L133Q probably damaging Het
Aoc1l3 T A 6: 48,964,509 (GRCm39) F172L probably benign Het
AU040320 A T 4: 126,717,509 (GRCm39) H362L possibly damaging Het
Bmpr1a C T 14: 34,146,999 (GRCm39) V258M probably damaging Het
Bptf T A 11: 106,972,193 (GRCm39) K892* probably null Het
Cap2 A G 13: 46,801,840 (GRCm39) *422W probably null Het
Cars2 G T 8: 11,567,854 (GRCm39) H414N probably benign Het
Ccnt1 A C 15: 98,442,124 (GRCm39) S381R probably benign Het
Cdyl2 A T 8: 117,321,794 (GRCm39) C244* probably null Het
Cers2 A G 3: 95,228,305 (GRCm39) E115G probably null Het
Cpt1b G A 15: 89,303,477 (GRCm39) P553S probably benign Het
Cuedc1 A G 11: 88,068,136 (GRCm39) E128G probably damaging Het
Dll4 T A 2: 119,156,968 (GRCm39) V80D probably damaging Het
Dop1b T C 16: 93,536,874 (GRCm39) L113P probably damaging Het
Fam98a A G 17: 75,845,810 (GRCm39) I312T probably damaging Het
Gnrhr T G 5: 86,345,473 (GRCm39) K71T possibly damaging Het
Gtf3c3 A T 1: 54,445,032 (GRCm39) L674Q probably damaging Het
Hipk2 A T 6: 38,795,212 (GRCm39) H352Q probably damaging Het
Hivep1 T C 13: 42,313,115 (GRCm39) V1785A probably damaging Het
Hspa4 A T 11: 53,153,810 (GRCm39) I687N probably damaging Het
Krt18 A T 15: 101,936,955 (GRCm39) D81V probably damaging Het
Lama3 A C 18: 12,685,912 (GRCm39) D1142A probably damaging Het
Lnpep A G 17: 17,766,727 (GRCm39) I713T possibly damaging Het
Man2b2 T A 5: 36,967,677 (GRCm39) Y897F probably damaging Het
Muc5b A T 7: 141,412,738 (GRCm39) I1895F unknown Het
Myh8 G A 11: 67,177,089 (GRCm39) V414I probably damaging Het
Myo1d A T 11: 80,575,149 (GRCm39) probably null Het
Nav2 A T 7: 49,141,121 (GRCm39) M889L probably benign Het
Oc90 C T 15: 65,754,457 (GRCm39) G236D probably benign Het
Or13a27 A G 7: 139,925,548 (GRCm39) V118A probably benign Het
Pak4 A G 7: 28,267,631 (GRCm39) I11T probably damaging Het
Papss2 T C 19: 32,615,787 (GRCm39) I173T probably damaging Het
Pcsk9 A T 4: 106,320,988 (GRCm39) D40E probably benign Het
Pdzrn3 G C 6: 101,128,064 (GRCm39) H867Q probably damaging Het
Plcb1 A T 2: 135,094,696 (GRCm39) I174F possibly damaging Het
Pom121l2 G A 13: 22,166,015 (GRCm39) W95* probably null Het
Prcp A T 7: 92,577,843 (GRCm39) T336S probably benign Het
Ralgds T C 2: 28,435,224 (GRCm39) I405T probably damaging Het
Rasgrf1 A G 9: 89,902,478 (GRCm39) R1208G probably damaging Het
Rasgrp2 T A 19: 6,458,864 (GRCm39) probably null Het
Rb1 A T 14: 73,450,566 (GRCm39) Y599* probably null Het
Rnf141 A T 7: 110,433,010 (GRCm39) F62L probably damaging Het
Rsl24d1 T A 9: 73,023,698 (GRCm39) F292I possibly damaging Het
Scn10a C T 9: 119,477,175 (GRCm39) V736I probably damaging Het
Sim2 A T 16: 93,905,598 (GRCm39) T141S probably benign Het
Slc6a15 G T 10: 103,244,067 (GRCm39) V436L probably damaging Het
Smarca2 T C 19: 26,668,772 (GRCm39) S924P probably damaging Het
Tacc1 T C 8: 25,671,881 (GRCm39) E449G probably benign Het
Tlr3 A T 8: 45,852,137 (GRCm39) N253K possibly damaging Het
Tmem198 G A 1: 75,456,500 (GRCm39) A82T probably benign Het
Tom1l2 A T 11: 60,133,648 (GRCm39) L54* probably null Het
Trav12-2 A G 14: 53,854,356 (GRCm39) Y110C probably benign Het
Trdn T A 10: 33,209,247 (GRCm39) probably null Het
Trim36 G T 18: 46,300,565 (GRCm39) P690Q probably damaging Het
Trpc4 A T 3: 54,206,599 (GRCm39) M600L probably damaging Het
Trpm2 T A 10: 77,759,355 (GRCm39) Q1143L probably benign Het
Usp34 T A 11: 23,283,739 (GRCm39) D144E probably benign Het
Vps18 A T 2: 119,127,858 (GRCm39) R894* probably null Het
Vwa1 A G 4: 155,855,369 (GRCm39) V248A probably benign Het
Wdr75 T C 1: 45,838,211 (GRCm39) V40A probably damaging Het
Other mutations in Prdm11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01526:Prdm11 APN 2 92,843,102 (GRCm39) missense probably damaging 1.00
IGL02108:Prdm11 APN 2 92,806,048 (GRCm39) missense probably damaging 1.00
IGL02166:Prdm11 APN 2 92,843,208 (GRCm39) missense probably damaging 1.00
IGL02369:Prdm11 APN 2 92,805,864 (GRCm39) missense probably benign 0.00
IGL02388:Prdm11 APN 2 92,805,957 (GRCm39) missense possibly damaging 0.90
IGL02606:Prdm11 APN 2 92,805,948 (GRCm39) missense probably benign 0.02
IGL02967:Prdm11 APN 2 92,843,234 (GRCm39) missense probably damaging 1.00
IGL03085:Prdm11 APN 2 92,805,304 (GRCm39) missense possibly damaging 0.86
IGL03125:Prdm11 APN 2 92,810,967 (GRCm39) missense probably benign 0.22
E0370:Prdm11 UTSW 2 92,810,924 (GRCm39) missense probably damaging 1.00
R0607:Prdm11 UTSW 2 92,844,130 (GRCm39) missense possibly damaging 0.85
R0964:Prdm11 UTSW 2 92,819,567 (GRCm39) intron probably benign
R4011:Prdm11 UTSW 2 92,843,175 (GRCm39) missense probably damaging 1.00
R4298:Prdm11 UTSW 2 92,823,728 (GRCm39) missense probably benign 0.44
R4951:Prdm11 UTSW 2 92,810,954 (GRCm39) missense probably damaging 1.00
R5150:Prdm11 UTSW 2 92,805,817 (GRCm39) missense probably damaging 1.00
R5432:Prdm11 UTSW 2 92,806,158 (GRCm39) missense probably benign 0.00
R6442:Prdm11 UTSW 2 92,805,990 (GRCm39) missense probably benign 0.34
R6754:Prdm11 UTSW 2 92,844,137 (GRCm39) missense probably damaging 1.00
R7403:Prdm11 UTSW 2 92,817,036 (GRCm39) missense probably benign
R7480:Prdm11 UTSW 2 92,805,669 (GRCm39) missense probably benign 0.05
R7497:Prdm11 UTSW 2 92,843,052 (GRCm39) missense possibly damaging 0.93
R7633:Prdm11 UTSW 2 92,810,999 (GRCm39) missense probably damaging 1.00
R7873:Prdm11 UTSW 2 92,819,628 (GRCm39) missense probably benign 0.01
R7936:Prdm11 UTSW 2 92,806,106 (GRCm39) missense possibly damaging 0.67
R7939:Prdm11 UTSW 2 92,843,074 (GRCm39) missense probably damaging 1.00
R8548:Prdm11 UTSW 2 92,843,103 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCGTTTATACACCGCACG -3'
(R):5'- ATGTCCTTCAGTCCTCCAGG -3'

Sequencing Primer
(F):5'- TATACACCGCACGTCGCTC -3'
(R):5'- TCAGTCCTCCAGGGAGTAAGTATC -3'
Posted On 2016-07-22