Incidental Mutation 'R7928:Gm2696'
ID 643427
Institutional Source Beutler Lab
Gene Symbol Gm2696
Ensembl Gene ENSMUSG00000112600
Gene Name predicted gene 2696
Synonyms
MMRRC Submission 045975-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R7928 (G1)
Quality Score 999
Status Not validated
Chromosome 10
Chromosomal Location 77650456-77651238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77650723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 70 (T70S)
Ref Sequence ENSEMBL: ENSMUSP00000151479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000095491] [ENSMUST00000180157] [ENSMUST00000220062] [ENSMUST00000220393]
AlphaFold A0A1W2P709
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095491
SMART Domains Protein: ENSMUSP00000093145
Gene: ENSMUSG00000094913

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 14 66 1.7e-7 PFAM
Pfam:Keratin_B2_2 135 181 3.6e-4 PFAM
Pfam:Keratin_B2_2 165 212 6.9e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180157
SMART Domains Protein: ENSMUSP00000136824
Gene: ENSMUSG00000094913

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 9 56 7.1e-8 PFAM
Pfam:Keratin_B2_2 113 158 9.3e-6 PFAM
Pfam:Keratin_B2_2 153 198 3.4e-5 PFAM
Pfam:Keratin_B2_2 183 218 1.2e-3 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000220062
AA Change: T70S
Predicted Effect probably benign
Transcript: ENSMUST00000220393
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T A 15: 74,410,170 (GRCm39) W270R probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
App A T 16: 84,775,134 (GRCm39) V501D probably benign Het
Cnot6l A G 5: 96,278,927 (GRCm39) V97A possibly damaging Het
Cntrob A G 11: 69,191,121 (GRCm39) L831P probably damaging Het
Dmbt1 T C 7: 130,639,620 (GRCm39) S53P probably benign Het
Dnah2 T C 11: 69,321,661 (GRCm39) D3833G probably damaging Het
Dock4 T C 12: 40,838,302 (GRCm39) L1081P probably damaging Het
Dock7 T C 4: 98,889,335 (GRCm39) N185D Het
Dsn1 T C 2: 156,847,932 (GRCm39) probably benign Het
Evpl T C 11: 116,113,359 (GRCm39) T1444A possibly damaging Het
Fanci T C 7: 79,094,459 (GRCm39) L1130P probably benign Het
Fancm A G 12: 65,152,898 (GRCm39) D1118G unknown Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gm11596 A G 11: 99,683,622 (GRCm39) V166A unknown Het
Gm5773 A G 3: 93,680,997 (GRCm39) E223G probably damaging Het
Madd T A 2: 91,007,233 (GRCm39) D293V probably damaging Het
Odam A G 5: 88,035,269 (GRCm39) T78A possibly damaging Het
Or52ae9 T A 7: 103,390,397 (GRCm39) I17F probably damaging Het
Rassf3 A G 10: 121,252,984 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rhbdf1 T C 11: 32,159,898 (GRCm39) Y826C possibly damaging Het
Rnf13 C A 3: 57,671,729 (GRCm39) Q14K probably benign Het
Sec13 A G 6: 113,706,601 (GRCm39) S271P probably damaging Het
Sema6c T C 3: 95,079,620 (GRCm39) L638P probably damaging Het
Sgsh T G 11: 119,238,561 (GRCm39) H301P probably benign Het
Shh T C 5: 28,666,404 (GRCm39) M161V possibly damaging Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Stil C T 4: 114,887,198 (GRCm39) H764Y probably damaging Het
Vmn1r203 C T 13: 22,708,705 (GRCm39) T162I probably benign Het
Zfp950 G T 19: 61,107,938 (GRCm39) P382T probably damaging Het
Zzef1 T C 11: 72,712,722 (GRCm39) M214T probably damaging Het
Other mutations in Gm2696
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB005:Gm2696 UTSW 10 77,650,723 (GRCm39) missense unknown
BB015:Gm2696 UTSW 10 77,650,723 (GRCm39) missense unknown
R6249:Gm2696 UTSW 10 77,630,646 (GRCm39) unclassified probably benign
R6320:Gm2696 UTSW 10 77,671,972 (GRCm39) intron probably benign
R6520:Gm2696 UTSW 10 77,672,332 (GRCm39) intron probably benign
R7115:Gm2696 UTSW 10 77,672,133 (GRCm39) missense unknown
R8725:Gm2696 UTSW 10 77,672,034 (GRCm39) missense unknown
R8746:Gm2696 UTSW 10 77,651,037 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGTTCTGACACTCGAACCAAC -3'
(R):5'- ATGAGGATTGGCAGCTAGAC -3'

Sequencing Primer
(F):5'- AACTCCTCCTGGCAGGTG -3'
(R):5'- TCCAGAGCAGATGGGTGTGC -3'
Posted On 2020-08-07