Incidental Mutation 'R8719:H2-T22'
ID 670043
Institutional Source Beutler Lab
Gene Symbol H2-T22
Ensembl Gene ENSMUSG00000056116
Gene Name histocompatibility 2, T region locus 22
Synonyms H2-T17, H-2T17, H-2T22
MMRRC Submission 068614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8719 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 36348020-36353634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36352835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 91 (I91V)
Ref Sequence ENSEMBL: ENSMUSP00000077111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058801] [ENSMUST00000077960] [ENSMUST00000080015] [ENSMUST00000097331] [ENSMUST00000173280]
AlphaFold Q31615
PDB Structure CRYSTAL STRUCTURE ANALYSIS OF THE GAMMA/DELTA T CELL LIGAND T22 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000058801
AA Change: I91V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
AA Change: I91V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 5.8e-47 PFAM
IGc1 210 281 2.06e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077960
AA Change: I91V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: I91V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 4e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080015
AA Change: I91V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: I91V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 7.3e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097331
SMART Domains Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173280
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,700 (GRCm39) I224T probably benign Het
Adamts20 C G 15: 94,241,903 (GRCm39) A702P probably damaging Het
Ahdc1 T A 4: 132,791,533 (GRCm39) Y925N possibly damaging Het
Anapc1 T C 2: 128,483,369 (GRCm39) E1242G probably damaging Het
Angptl2 A G 2: 33,133,914 (GRCm39) N412S possibly damaging Het
Aox3 T C 1: 58,158,696 (GRCm39) V89A probably damaging Het
Atxn1l A T 8: 110,459,861 (GRCm39) S134T possibly damaging Het
Brf1 C A 12: 112,943,304 (GRCm39) probably benign Het
Cab39l A T 14: 59,734,314 (GRCm39) H11L probably benign Het
Cabcoco1 A G 10: 68,272,671 (GRCm39) probably benign Het
Ccdc150 C A 1: 54,302,668 (GRCm39) P96Q probably benign Het
Chek2 T C 5: 111,014,908 (GRCm39) V459A probably damaging Het
Cntnap2 A T 6: 45,978,161 (GRCm39) D272V probably damaging Het
Cspp1 T C 1: 10,160,516 (GRCm39) S572P possibly damaging Het
Cysltr2 T C 14: 73,267,111 (GRCm39) T200A possibly damaging Het
Dglucy T C 12: 100,804,821 (GRCm39) L104P probably damaging Het
Dnah8 T A 17: 30,960,289 (GRCm39) M2222K probably damaging Het
Dync2h1 C A 9: 7,041,641 (GRCm39) V3334F probably benign Het
Ear2 A T 14: 44,340,734 (GRCm39) T131S possibly damaging Het
Eef1akmt2 A T 7: 132,452,340 (GRCm39) V92D probably damaging Het
Fam83c T A 2: 155,671,128 (GRCm39) Q769L probably benign Het
Fanca A T 8: 124,014,867 (GRCm39) C812S probably benign Het
Gm21663 T G 5: 26,146,162 (GRCm39) R50S probably damaging Het
Gm5591 T G 7: 38,221,614 (GRCm39) S152R probably benign Het
Gm6370 T G 5: 146,430,626 (GRCm39) D270E probably damaging Het
Hdac5 T C 11: 102,097,963 (GRCm39) M61V probably benign Het
Hsd17b6 A G 10: 127,829,492 (GRCm39) S237P possibly damaging Het
Khk T A 5: 31,088,374 (GRCm39) F294I possibly damaging Het
Klc1 G A 12: 111,772,509 (GRCm39) probably benign Het
Lamb3 T C 1: 193,006,099 (GRCm39) W143R probably damaging Het
Lmo2 T C 2: 103,811,264 (GRCm39) I171T probably damaging Het
Meis1 A G 11: 18,835,587 (GRCm39) S344P probably benign Het
Nf1 C A 11: 79,281,119 (GRCm39) R125S possibly damaging Het
Nrcam A G 12: 44,586,325 (GRCm39) E105G probably benign Het
Nudt22 T C 19: 6,972,638 (GRCm39) D150G possibly damaging Het
Or14j8 T C 17: 38,263,895 (GRCm39) T7A probably damaging Het
Or5an1 A G 19: 12,260,792 (GRCm39) I127V probably benign Het
Or5b109 A G 19: 13,211,836 (GRCm39) Y74C probably damaging Het
Pclo A T 5: 14,763,778 (GRCm39) R799* probably null Het
Pelp1 T C 11: 70,292,789 (GRCm39) N175S probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pik3r4 C A 9: 105,559,394 (GRCm39) S1162R probably benign Het
Pkd1l3 A T 8: 110,341,255 (GRCm39) N36I unknown Het
Pomk T A 8: 26,473,503 (GRCm39) Y150F possibly damaging Het
Rdh11 T A 12: 79,229,574 (GRCm39) H233L probably benign Het
Rln1 A T 19: 29,309,281 (GRCm39) M166K probably benign Het
Rnf40 T A 7: 127,191,834 (GRCm39) L356Q probably damaging Het
Sin3b G T 8: 73,450,139 (GRCm39) G19W unknown Het
Slc6a15 A G 10: 103,240,176 (GRCm39) R300G probably damaging Het
Sncaip A T 18: 53,027,910 (GRCm39) K433M probably damaging Het
Tead2 A T 7: 44,882,316 (GRCm39) probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Tmem117 T C 15: 94,992,248 (GRCm39) F303L probably damaging Het
Tmem270 T G 5: 134,930,650 (GRCm39) T204P probably damaging Het
Trip12 A G 1: 84,722,790 (GRCm39) V1320A probably damaging Het
Ttc7b A G 12: 100,267,812 (GRCm39) L843P probably damaging Het
Ttn T C 2: 76,543,041 (GRCm39) Y33315C probably damaging Het
Ttn A G 2: 76,607,146 (GRCm39) V17959A possibly damaging Het
Vmn2r73 A G 7: 85,521,095 (GRCm39) V291A probably damaging Het
Ywhag T A 5: 135,939,998 (GRCm39) T199S probably benign Het
Zfp810 T C 9: 22,190,571 (GRCm39) T77A probably benign Het
Other mutations in H2-T22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:H2-T22 APN 17 36,352,811 (GRCm39) missense probably damaging 0.99
IGL02978:H2-T22 APN 17 36,352,517 (GRCm39) missense probably benign 0.00
R0078:H2-T22 UTSW 17 36,351,501 (GRCm39) missense probably damaging 0.99
R0448:H2-T22 UTSW 17 36,353,278 (GRCm39) missense possibly damaging 0.96
R1402:H2-T22 UTSW 17 36,351,161 (GRCm39) missense possibly damaging 0.95
R1402:H2-T22 UTSW 17 36,351,161 (GRCm39) missense possibly damaging 0.95
R1592:H2-T22 UTSW 17 36,352,469 (GRCm39) missense probably damaging 0.99
R1830:H2-T22 UTSW 17 36,352,434 (GRCm39) missense probably benign 0.00
R2105:H2-T22 UTSW 17 36,351,409 (GRCm39) missense probably benign 0.23
R2116:H2-T22 UTSW 17 36,349,949 (GRCm39) splice site probably null
R2964:H2-T22 UTSW 17 36,351,537 (GRCm39) missense probably damaging 1.00
R2965:H2-T22 UTSW 17 36,351,537 (GRCm39) missense probably damaging 1.00
R3425:H2-T22 UTSW 17 36,352,472 (GRCm39) missense probably damaging 1.00
R3875:H2-T22 UTSW 17 36,351,195 (GRCm39) missense probably benign 0.03
R4614:H2-T22 UTSW 17 36,351,429 (GRCm39) missense probably benign 0.28
R4691:H2-T22 UTSW 17 36,352,462 (GRCm39) frame shift probably null
R4870:H2-T22 UTSW 17 36,349,924 (GRCm39) missense probably benign 0.00
R4954:H2-T22 UTSW 17 36,352,851 (GRCm39) missense probably damaging 1.00
R5109:H2-T22 UTSW 17 36,350,113 (GRCm39) nonsense probably null
R5995:H2-T22 UTSW 17 36,352,377 (GRCm39) missense probably benign 0.18
R7379:H2-T22 UTSW 17 36,353,232 (GRCm39) critical splice donor site probably null
R7597:H2-T22 UTSW 17 36,351,408 (GRCm39) missense probably damaging 1.00
R8861:H2-T22 UTSW 17 36,353,290 (GRCm39) missense possibly damaging 0.86
R9661:H2-T22 UTSW 17 36,353,371 (GRCm39) start gained probably benign
Z1088:H2-T22 UTSW 17 36,352,530 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCGCAGCAACACGAGTAG -3'
(R):5'- ACTCGCTTAGGTATTTCTACACCG -3'

Sequencing Primer
(F):5'- AGTAAATCCCTGCAGACTCTTGG -3'
(R):5'- GCTGTGTCCCGGCCTGG -3'
Posted On 2021-04-30