Incidental Mutation 'R0681:Med22'
ID 208412
Institutional Source Beutler Lab
Gene Symbol Med22
Ensembl Gene ENSMUSG00000015776
Gene Name mediator complex subunit 22
Synonyms Surf-5, Surf5
MMRRC Submission 038866-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0681 (G1)
Quality Score 71
Status Validated
Chromosome 2
Chromosomal Location 26795279-26800654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26800391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 13 (T13A)
Ref Sequence ENSEMBL: ENSMUSP00000116442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015920] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000102899] [ENSMUST00000139815] [ENSMUST00000129682] [ENSMUST00000147110] [ENSMUST00000167661]
AlphaFold Q62276
Predicted Effect probably benign
Transcript: ENSMUST00000015920
AA Change: T13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776
AA Change: T13A

DomainStartEndE-ValueType
Pfam:Med22 20 125 5.7e-40 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000015934
SMART Domains Protein: ENSMUSP00000015934
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
Pfam:SURF1 106 321 6.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083361
Predicted Effect probably benign
Transcript: ENSMUST00000102898
SMART Domains Protein: ENSMUSP00000099962
Gene: ENSMUSG00000062647

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 122 216 1.2e-25 PFAM
low complexity region 251 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102899
AA Change: T13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776
AA Change: T13A

DomainStartEndE-ValueType
Pfam:Med22 14 130 5.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139815
AA Change: T13A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776
AA Change: T13A

DomainStartEndE-ValueType
Pfam:Med22 14 72 3e-14 PFAM
Pfam:Med22 96 166 2.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142967
Predicted Effect probably benign
Transcript: ENSMUST00000129682
Predicted Effect probably benign
Transcript: ENSMUST00000147110
SMART Domains Protein: ENSMUSP00000141238
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:SURF1 30 240 5.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149339
Predicted Effect probably benign
Transcript: ENSMUST00000167661
SMART Domains Protein: ENSMUSP00000128488
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 51 66 N/A INTRINSIC
Pfam:SURF1 73 290 5.9e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183520
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,676,649 (GRCm39) D1341Y probably damaging Het
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Cdk13 A G 13: 17,895,882 (GRCm39) probably benign Het
Cfhr1 A T 1: 139,485,249 (GRCm39) S66T probably damaging Het
Cldn6 C A 17: 23,900,167 (GRCm39) Q44K probably damaging Het
Cntnap5c T C 17: 58,612,550 (GRCm39) V863A possibly damaging Het
Col6a4 T A 9: 105,944,343 (GRCm39) K1044* probably null Het
Cyb561d1 A G 3: 108,106,583 (GRCm39) V212A probably benign Het
Cyp1b1 A G 17: 80,021,275 (GRCm39) S156P probably damaging Het
Dock7 G A 4: 98,904,941 (GRCm39) H645Y probably damaging Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Fastkd3 C T 13: 68,740,047 (GRCm39) probably benign Het
Galnt10 T A 11: 57,660,366 (GRCm39) V268D probably damaging Het
Grb14 G T 2: 64,747,631 (GRCm39) A10E probably damaging Het
Grin2c A G 11: 115,140,479 (GRCm39) V1213A probably benign Het
Grip1 C T 10: 119,846,135 (GRCm39) T570I probably damaging Het
Hif1an T C 19: 44,551,762 (GRCm39) Y71H probably benign Het
Hsd17b11 T A 5: 104,151,072 (GRCm39) I221L probably benign Het
Htra1 A T 7: 130,581,027 (GRCm39) probably benign Het
Igfn1 T C 1: 135,891,591 (GRCm39) E2308G possibly damaging Het
Mapk9 T A 11: 49,760,072 (GRCm39) S129T probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mtus1 A T 8: 41,446,554 (GRCm39) L489Q probably damaging Het
Naprt G A 15: 75,765,481 (GRCm39) P120S probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Ogfod2 A G 5: 124,250,907 (GRCm39) E62G probably null Het
Or13a1 A T 6: 116,471,361 (GRCm39) S264C probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Palm A C 10: 79,655,327 (GRCm39) T362P probably benign Het
Pcare T G 17: 72,056,509 (GRCm39) H1056P probably benign Het
Pcdh8 T C 14: 80,007,400 (GRCm39) T388A probably benign Het
Pclo A G 5: 14,725,332 (GRCm39) I1397V unknown Het
Per1 A G 11: 68,992,027 (GRCm39) E127G probably damaging Het
Plekha1 T C 7: 130,502,353 (GRCm39) V30A possibly damaging Het
Pramel24 A T 4: 143,454,622 (GRCm39) T307S probably benign Het
Rab26 A G 17: 24,746,940 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,750 (GRCm39) D999G possibly damaging Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rrp1b T C 17: 32,279,369 (GRCm39) S677P probably damaging Het
Scaf4 G A 16: 90,046,582 (GRCm39) P485S unknown Het
Scn5a A T 9: 119,368,706 (GRCm39) M273K probably damaging Het
Sec22a C T 16: 35,181,926 (GRCm39) probably null Het
Slc10a6 C A 5: 103,760,315 (GRCm39) V227F possibly damaging Het
Slc39a3 C G 10: 80,869,565 (GRCm39) E31Q probably benign Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Tdrd7 T A 4: 46,016,879 (GRCm39) M673K probably benign Het
Trim8 C A 19: 46,503,532 (GRCm39) S361R possibly damaging Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Vmn1r46 A T 6: 89,953,946 (GRCm39) D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 (GRCm39) I532M probably damaging Het
Other mutations in Med22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Med22 APN 2 26,799,004 (GRCm39) critical splice donor site probably null
R3008:Med22 UTSW 2 26,798,396 (GRCm39) unclassified probably benign
R3831:Med22 UTSW 2 26,800,379 (GRCm39) missense probably damaging 1.00
R3832:Med22 UTSW 2 26,800,379 (GRCm39) missense probably damaging 1.00
R3833:Med22 UTSW 2 26,800,379 (GRCm39) missense probably damaging 1.00
R6858:Med22 UTSW 2 26,795,949 (GRCm39) missense possibly damaging 0.91
R7230:Med22 UTSW 2 26,798,223 (GRCm39) missense probably benign
R7852:Med22 UTSW 2 26,800,376 (GRCm39) missense probably damaging 1.00
R8722:Med22 UTSW 2 26,800,313 (GRCm39) missense probably benign
R9364:Med22 UTSW 2 26,795,821 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGGTGAGTCACATTCCCTCTGC -3'
(R):5'- CGGATTTAAAGCGACAAGGACCCAC -3'

Sequencing Primer
(F):5'- AGTCACATTCCCTCTGCTTTCC -3'
(R):5'- CCACTTCGGACTCTGACAG -3'
Posted On 2014-06-25