Incidental Mutation 'R8100:Skint2'
ID 630445
Institutional Source Beutler Lab
Gene Symbol Skint2
Ensembl Gene ENSMUSG00000034359
Gene Name selection and upkeep of intraepithelial T cells 2
Synonyms OTTMUSG00000008540, B7S3
MMRRC Submission 067532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R8100 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 112470795-112509445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 112483197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 201 (T201P)
Ref Sequence ENSEMBL: ENSMUSP00000139831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058791] [ENSMUST00000106560] [ENSMUST00000186969]
AlphaFold A7XUX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000058791
AA Change: T201P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: T201P

DomainStartEndE-ValueType
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 140 225 2.7e-10 PFAM
Pfam:Ig_2 153 231 3.6e-3 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106560
AA Change: T201P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: T201P

DomainStartEndE-ValueType
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 145 225 1.3e-10 PFAM
Pfam:Ig_2 153 231 2e-3 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186969
AA Change: T201P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: T201P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 145 225 2e-10 PFAM
Pfam:Ig_2 154 231 1.7e-3 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
transmembrane domain 322 344 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G A 14: 56,009,722 (GRCm39) Q777* probably null Het
Art1 T C 7: 101,756,405 (GRCm39) S199P probably damaging Het
Cadps2 A T 6: 23,838,808 (GRCm39) M110K probably damaging Het
Cdk13 C T 13: 17,978,101 (GRCm39) R379Q unknown Het
Cdk7 T C 13: 100,842,925 (GRCm39) I272V probably benign Het
Cep350 T C 1: 155,829,148 (GRCm39) D192G probably damaging Het
Chrna6 C T 8: 27,903,844 (GRCm39) probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Ckmt1 T A 2: 121,191,258 (GRCm39) D223E probably benign Het
Col6a5 C T 9: 105,755,839 (GRCm39) R2195H probably damaging Het
D430041D05Rik C T 2: 104,087,287 (GRCm39) R563H probably benign Het
Defa29 A T 8: 21,816,990 (GRCm39) M1K probably null Het
Dnah11 A G 12: 117,930,368 (GRCm39) S3326P probably damaging Het
Dsg3 A G 18: 20,662,028 (GRCm39) D431G probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Fbln1 T A 15: 85,169,357 (GRCm39) F699I probably damaging Het
Fndc1 A G 17: 7,990,685 (GRCm39) S1004P unknown Het
Gpr15 T A 16: 58,538,076 (GRCm39) T338S probably benign Het
Grin2d T C 7: 45,483,171 (GRCm39) Y1002C unknown Het
Hk2 C T 6: 82,707,859 (GRCm39) M703I probably benign Het
Ifi213 A C 1: 173,422,748 (GRCm39) L39R probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 C A 10: 26,917,113 (GRCm39) A2271S probably benign Het
Lmo7 A T 14: 102,137,899 (GRCm39) Q867L probably benign Het
Loxhd1 T A 18: 77,492,512 (GRCm39) S1427T possibly damaging Het
Lzts1 A G 8: 69,593,397 (GRCm39) V70A probably damaging Het
Mocs3 A G 2: 168,073,257 (GRCm39) T235A possibly damaging Het
Myo15a G A 11: 60,408,016 (GRCm39) R3168H probably damaging Het
Ndc1 A G 4: 107,240,802 (GRCm39) D260G possibly damaging Het
Nfam1 T C 15: 82,900,730 (GRCm39) D44G probably damaging Het
Or4a47 G A 2: 89,666,029 (GRCm39) Q87* probably null Het
Osbpl10 G A 9: 114,996,322 (GRCm39) R128H probably benign Het
Otx1 C A 11: 21,949,392 (GRCm39) V29L probably benign Het
Pogk A T 1: 166,229,511 (GRCm39) D113E possibly damaging Het
Ptgs2 T C 1: 149,978,472 (GRCm39) F195L probably damaging Het
Ptpn21 T A 12: 98,648,881 (GRCm39) E925V possibly damaging Het
Ranbp2 T C 10: 58,326,470 (GRCm39) F2714L possibly damaging Het
Rbm20 T G 19: 53,839,744 (GRCm39) I911S possibly damaging Het
Rwdd2b A G 16: 87,233,509 (GRCm39) V197A possibly damaging Het
Sel1l2 C G 2: 140,117,329 (GRCm39) A181P probably damaging Het
Sf1 A G 19: 6,422,368 (GRCm39) E234G possibly damaging Het
Sra1 C T 18: 36,809,948 (GRCm39) R199H probably damaging Het
Svs5 A G 2: 164,079,712 (GRCm39) M65T probably benign Het
Tgif1 C A 17: 71,153,544 (GRCm39) probably benign Het
Tmem184c A G 8: 78,331,411 (GRCm39) W113R possibly damaging Het
Tmem30a T C 9: 79,681,432 (GRCm39) R282G probably benign Het
Top1 T A 2: 160,540,155 (GRCm39) Y244* probably null Het
Trank1 A G 9: 111,221,861 (GRCm39) Y2866C probably damaging Het
Trim7 A C 11: 48,740,346 (GRCm39) I148L probably damaging Het
Triml1 T A 8: 43,591,717 (GRCm39) M214L probably benign Het
Usp30 T G 5: 114,249,245 (GRCm39) V183G probably damaging Het
Vmn1r175 G A 7: 23,508,012 (GRCm39) S205F probably damaging Het
Zbtb32 CTTG CTTGTTG 7: 30,290,946 (GRCm39) probably benign Het
Zfp108 T A 7: 23,960,602 (GRCm39) C398S probably damaging Het
Zfp592 T G 7: 80,673,940 (GRCm39) D301E probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Skint2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Skint2 APN 4 112,481,409 (GRCm39) missense probably damaging 1.00
IGL00801:Skint2 APN 4 112,483,188 (GRCm39) missense possibly damaging 0.88
IGL01602:Skint2 APN 4 112,483,191 (GRCm39) missense probably benign 0.44
IGL01605:Skint2 APN 4 112,483,191 (GRCm39) missense probably benign 0.44
IGL02015:Skint2 APN 4 112,481,325 (GRCm39) nonsense probably null
IGL02694:Skint2 APN 4 112,473,792 (GRCm39) splice site probably benign
IGL03247:Skint2 APN 4 112,483,223 (GRCm39) missense probably benign 0.06
PIT4677001:Skint2 UTSW 4 112,483,135 (GRCm39) missense probably benign 0.10
R0054:Skint2 UTSW 4 112,502,660 (GRCm39) missense probably benign 0.15
R0054:Skint2 UTSW 4 112,502,660 (GRCm39) missense probably benign 0.15
R0190:Skint2 UTSW 4 112,473,729 (GRCm39) missense possibly damaging 0.85
R0479:Skint2 UTSW 4 112,481,238 (GRCm39) missense possibly damaging 0.47
R0625:Skint2 UTSW 4 112,481,283 (GRCm39) missense probably damaging 1.00
R1143:Skint2 UTSW 4 112,483,133 (GRCm39) missense probably benign 0.00
R1564:Skint2 UTSW 4 112,483,195 (GRCm39) missense probably damaging 1.00
R1861:Skint2 UTSW 4 112,504,315 (GRCm39) intron probably benign
R1864:Skint2 UTSW 4 112,483,106 (GRCm39) missense probably benign 0.10
R3079:Skint2 UTSW 4 112,496,870 (GRCm39) missense probably benign 0.01
R3891:Skint2 UTSW 4 112,481,383 (GRCm39) missense probably damaging 1.00
R4422:Skint2 UTSW 4 112,441,785 (GRCm39) intron probably benign
R4799:Skint2 UTSW 4 112,509,305 (GRCm39) missense probably benign 0.07
R5458:Skint2 UTSW 4 112,481,377 (GRCm39) missense possibly damaging 0.83
R5482:Skint2 UTSW 4 112,483,076 (GRCm39) missense probably damaging 1.00
R5603:Skint2 UTSW 4 112,506,961 (GRCm39) missense possibly damaging 0.91
R7068:Skint2 UTSW 4 112,481,548 (GRCm39) missense probably damaging 1.00
R7233:Skint2 UTSW 4 112,483,122 (GRCm39) missense probably damaging 0.99
R7335:Skint2 UTSW 4 112,481,415 (GRCm39) missense probably damaging 1.00
R7516:Skint2 UTSW 4 112,483,168 (GRCm39) missense probably damaging 1.00
R7790:Skint2 UTSW 4 112,473,751 (GRCm39) missense possibly damaging 0.71
R7878:Skint2 UTSW 4 112,506,942 (GRCm39) missense possibly damaging 0.85
R7941:Skint2 UTSW 4 112,483,187 (GRCm39) missense probably damaging 1.00
R7965:Skint2 UTSW 4 112,502,648 (GRCm39) missense probably benign 0.17
R7976:Skint2 UTSW 4 112,481,329 (GRCm39) missense probably damaging 1.00
R9014:Skint2 UTSW 4 112,483,026 (GRCm39) missense probably benign 0.00
R9114:Skint2 UTSW 4 112,496,834 (GRCm39) missense probably benign 0.00
R9228:Skint2 UTSW 4 112,483,039 (GRCm39) missense possibly damaging 0.88
R9245:Skint2 UTSW 4 112,502,616 (GRCm39) missense probably benign
R9336:Skint2 UTSW 4 112,483,054 (GRCm39) missense probably benign 0.02
R9370:Skint2 UTSW 4 112,481,259 (GRCm39) missense possibly damaging 0.87
R9606:Skint2 UTSW 4 112,483,147 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TTATGGCAACCAGGGTCCTG -3'
(R):5'- CTTTATAAACCAAGTCAAGGAAGAAGC -3'

Sequencing Primer
(F):5'- AACCAGGGTCCTGTAGACTTTTTGAC -3'
(R):5'- CCAAGTCAAGGAAGAAGCTAATAAC -3'
Posted On 2020-06-30