Incidental Mutation 'R6538:Tcstv7b'
ID 520560
Institutional Source Beutler Lab
Gene Symbol Tcstv7b
Ensembl Gene ENSMUSG00000063846
Gene Name Tcstv family member 7B
Synonyms Gm21731
MMRRC Submission 044664-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6538 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 120700647-120702903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120702468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000153383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079524] [ENSMUST00000223770]
AlphaFold A0A286YDE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000079524
AA Change: V88A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137283
Gene: ENSMUSG00000063846
AA Change: V88A

DomainStartEndE-ValueType
Pfam:DUF1438 1 150 3.5e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223770
AA Change: V88A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,406,104 (GRCm39) probably benign Het
Abcd4 T A 12: 84,658,535 (GRCm39) M223L probably benign Het
Adat1 T C 8: 112,695,094 (GRCm39) I482V probably benign Het
Adrm1b C T 3: 92,336,562 (GRCm39) V47M possibly damaging Het
Arfgef2 A G 2: 166,735,541 (GRCm39) probably null Het
Atn1 A G 6: 124,723,512 (GRCm39) probably benign Het
Cyb561d2 C A 9: 107,417,216 (GRCm39) M178I possibly damaging Het
Dnah14 A T 1: 181,412,550 (GRCm39) H30L unknown Het
Dnah2 T C 11: 69,328,023 (GRCm39) I3367V possibly damaging Het
Fcmr A G 1: 130,802,762 (GRCm39) Y125C possibly damaging Het
Gm7298 G T 6: 121,753,132 (GRCm39) V870L probably damaging Het
Grin3a T C 4: 49,770,856 (GRCm39) S639G probably damaging Het
H1f6 A G 13: 23,879,904 (GRCm39) E19G probably benign Het
Ighv9-1 T A 12: 114,057,685 (GRCm39) T72S possibly damaging Het
Klra2 T A 6: 131,219,953 (GRCm39) H76L probably damaging Het
Lamp1 A G 8: 13,221,285 (GRCm39) T209A probably benign Het
Lrrc9 T A 12: 72,547,703 (GRCm39) Y1294N probably benign Het
Or2b11 C T 11: 59,462,411 (GRCm39) V52I probably benign Het
Or5t9 A T 2: 86,659,869 (GRCm39) T258S possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pik3ca T C 3: 32,493,853 (GRCm39) Y272H probably damaging Het
Spindoc T C 19: 7,360,064 (GRCm39) I35V probably benign Het
St6galnac4 A C 2: 32,487,090 (GRCm39) M262L possibly damaging Het
Szt2 C T 4: 118,247,674 (GRCm39) probably null Het
Trem1 T C 17: 48,544,118 (GRCm39) Y48H possibly damaging Het
Trim38 A T 13: 23,969,932 (GRCm39) T164S probably damaging Het
Zfp715 A T 7: 42,948,573 (GRCm39) H462Q possibly damaging Het
Zfyve16 C T 13: 92,641,024 (GRCm39) G1240E probably damaging Het
Other mutations in Tcstv7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1600:Tcstv7b UTSW 13 120,702,369 (GRCm39) missense probably benign 0.00
R3792:Tcstv7b UTSW 13 120,702,467 (GRCm39) missense probably damaging 0.98
R4674:Tcstv7b UTSW 13 120,702,362 (GRCm39) missense probably damaging 0.99
R4675:Tcstv7b UTSW 13 120,702,362 (GRCm39) missense probably damaging 0.99
R4925:Tcstv7b UTSW 13 120,702,384 (GRCm39) missense probably damaging 1.00
R7186:Tcstv7b UTSW 13 120,702,587 (GRCm39) missense probably damaging 0.97
R7541:Tcstv7b UTSW 13 120,702,515 (GRCm39) missense probably benign
R7633:Tcstv7b UTSW 13 120,702,376 (GRCm39) nonsense probably null
R8669:Tcstv7b UTSW 13 120,702,338 (GRCm39) missense probably benign
R8997:Tcstv7b UTSW 13 120,702,515 (GRCm39) missense probably benign
R9648:Tcstv7b UTSW 13 120,702,495 (GRCm39) missense possibly damaging 0.90
Z1177:Tcstv7b UTSW 13 120,702,708 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGCCCTGAGACCACGATATTC -3'
(R):5'- GCCAAAAGCCCTTTGAAGCC -3'

Sequencing Primer
(F):5'- TGAGACCACGATATTCCAGGTCTG -3'
(R):5'- CCATAAGCAGCAGCCTAGGTG -3'
Posted On 2018-06-06