Incidental Mutation 'R9194:Dgcr14'
ID 697878
Institutional Source Beutler Lab
Gene Symbol Dgcr14
Ensembl Gene ENSMUSG00000003527
Gene Name DiGeorge syndrome critical region gene 14
Synonyms Dgsi, ES2, Es2el, D16H22S1269E
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17900709-17911348 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17910164 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 79 (D79E)
Ref Sequence ENSEMBL: ENSMUSP00000003621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]
AlphaFold O70279
Predicted Effect probably damaging
Transcript: ENSMUST00000003621
AA Change: D79E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: D79E

DomainStartEndE-ValueType
low complexity region 7 34 N/A INTRINSIC
Pfam:Es2 37 405 1.9e-76 PFAM
low complexity region 434 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000012279
SMART Domains Protein: ENSMUSP00000012279
Gene: ENSMUSG00000022738

DomainStartEndE-ValueType
low complexity region 59 85 N/A INTRINSIC
low complexity region 95 119 N/A INTRINSIC
HOX 136 198 2.9e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000232423
AA Change: D79E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232493
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
MGI Phenotype FUNCTION: The human ortholog of this gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,259,088 M1K probably null Het
Adra1b A T 11: 43,835,436 V218D probably damaging Het
Ank1 A G 8: 23,116,239 S1216G possibly damaging Het
Celsr1 G T 15: 86,033,085 S229* probably null Het
Cfap44 G T 16: 44,468,461 D1525Y probably damaging Het
Chd8 A T 14: 52,202,193 M2341K probably benign Het
Chst11 A G 10: 83,191,485 T249A probably damaging Het
Cttnbp2 A G 6: 18,434,851 V336A probably benign Het
Dennd3 T C 15: 73,547,304 L648P probably benign Het
Dhx16 T C 17: 35,889,281 V864A probably benign Het
Enpp3 G A 10: 24,799,194 H362Y possibly damaging Het
Fam83c T A 2: 155,829,379 Y712F probably damaging Het
Helz C T 11: 107,670,287 Q1392* probably null Het
Il18rap C T 1: 40,543,017 T366M probably benign Het
Iqch T C 9: 63,572,679 H143R probably benign Het
Itgb5 A G 16: 33,900,511 D315G probably damaging Het
Kcnmb2 A G 3: 32,182,025 K141R probably benign Het
Lrrc37a G A 11: 103,500,850 P1250S probably benign Het
Mcm5 T G 8: 75,110,334 V110G probably damaging Het
Med27 G A 2: 29,471,300 D163N probably damaging Het
Mms22l C A 4: 24,600,185 Y1129* probably null Het
Mov10l1 G A 15: 89,046,820 R1081H probably damaging Het
Mtpap C G 18: 4,380,833 N170K probably benign Het
Mtpap C T 18: 4,380,834 Q171* probably null Het
Myo6 T A 9: 80,246,554 F271I unknown Het
Ndst4 C T 3: 125,724,736 S354L probably benign Het
Nfatc1 C T 18: 80,708,043 A26T probably benign Het
Olfr867 C A 9: 20,055,247 C72F probably damaging Het
Piezo2 G C 18: 63,117,744 T428S probably benign Het
Prkch A G 12: 73,721,842 E462G probably damaging Het
Rbm20 A G 19: 53,834,700 Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,149,585 probably null Het
Rpp40 C T 13: 35,896,915 D302N probably benign Het
Sash1 A G 10: 8,740,205 V631A probably damaging Het
Sstr2 A G 11: 113,624,377 T41A probably benign Het
Thsd7b T A 1: 129,915,634 V861E possibly damaging Het
Tomm70a A G 16: 57,152,707 K603E possibly damaging Het
Tpd52l2 T A 2: 181,499,890 M22K possibly damaging Het
Tpst1 T A 5: 130,102,019 L110Q possibly damaging Het
Tram1l1 A G 3: 124,321,488 Y99C possibly damaging Het
Ttc39b A G 4: 83,263,740 F81L possibly damaging Het
Ubr1 A G 2: 120,947,844 Y238H probably damaging Het
Vmn1r202 G T 13: 22,502,146 H34N possibly damaging Het
Vmn1r36 G A 6: 66,716,052 Q280* probably null Het
Xpnpep1 A T 19: 53,011,858 V187E possibly damaging Het
Zfp592 A G 7: 81,024,601 I438V probably benign Het
Other mutations in Dgcr14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Dgcr14 APN 16 17902932 missense probably damaging 1.00
IGL02279:Dgcr14 APN 16 17902911 missense possibly damaging 0.95
R0227:Dgcr14 UTSW 16 17902271 missense probably damaging 0.97
R0316:Dgcr14 UTSW 16 17910094 missense probably benign 0.06
R0669:Dgcr14 UTSW 16 17907555 missense probably damaging 1.00
R0880:Dgcr14 UTSW 16 17911187 missense probably damaging 0.96
R1230:Dgcr14 UTSW 16 17909950 missense probably benign 0.00
R1429:Dgcr14 UTSW 16 17902205 nonsense probably null
R1633:Dgcr14 UTSW 16 17909967 missense probably benign 0.03
R1891:Dgcr14 UTSW 16 17907780 nonsense probably null
R2035:Dgcr14 UTSW 16 17910086 critical splice donor site probably null
R2267:Dgcr14 UTSW 16 17909995 missense probably damaging 1.00
R7126:Dgcr14 UTSW 16 17911290 missense unknown
R7804:Dgcr14 UTSW 16 17911167 missense probably damaging 0.96
R8479:Dgcr14 UTSW 16 17910941 splice site probably null
R8826:Dgcr14 UTSW 16 17905090 missense probably damaging 1.00
R9628:Dgcr14 UTSW 16 17902893 missense probably damaging 0.99
Z1176:Dgcr14 UTSW 16 17902310 missense possibly damaging 0.85
Z1177:Dgcr14 UTSW 16 17909922 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAAAGGTGGCTGGAGTAAC -3'
(R):5'- GATGACAGTTGTCCAGCTAGGC -3'

Sequencing Primer
(F):5'- TCAAAGGTGGCTGGAGTAACATCTG -3'
(R):5'- CAGTTGTCCAGCTAGGCAGAAG -3'
Posted On 2022-02-07