Incidental Mutation 'R4522:Gm7173'
ID334283
Institutional Source Beutler Lab
Gene Symbol Gm7173
Ensembl Gene ENSMUSG00000073077
Gene Namepredicted gene 7173
Synonyms
MMRRC Submission 041765-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #R4522 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location79266559-79517285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79509995 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 291 (N291K)
Ref Sequence ENSEMBL: ENSMUSP00000098956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101410] [ENSMUST00000197180]
Predicted Effect possibly damaging
Transcript: ENSMUST00000101410
AA Change: N291K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098956
Gene: ENSMUSG00000073077
AA Change: N291K

DomainStartEndE-ValueType
SCOP:d1grwa_ 390 460 1e-2 SMART
low complexity region 597 608 N/A INTRINSIC
low complexity region 653 676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197180
AA Change: N291K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142707
Gene: ENSMUSG00000073077
AA Change: N291K

DomainStartEndE-ValueType
low complexity region 597 608 N/A INTRINSIC
low complexity region 653 676 N/A INTRINSIC
low complexity region 1437 1450 N/A INTRINSIC
low complexity region 1599 1611 N/A INTRINSIC
CH 1679 1797 9e-6 SMART
low complexity region 2440 2451 N/A INTRINSIC
low complexity region 2578 2590 N/A INTRINSIC
low complexity region 2901 2911 N/A INTRINSIC
Meta Mutation Damage Score 0.1268 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,660,670 N700D probably benign Het
Babam2 G A 5: 32,007,242 V287M probably damaging Het
Brip1 T C 11: 86,189,801 I146M possibly damaging Het
Cacna1b C T 2: 24,654,430 R1248H probably damaging Het
Ccdc88c G T 12: 100,913,332 S1843R possibly damaging Het
Chaf1b G A 16: 93,901,295 A485T probably benign Het
Dock7 T C 4: 98,962,224 R1594G probably damaging Het
Fam122c G A X: 53,293,499 R94H possibly damaging Het
Fbxo41 A G 6: 85,484,042 I228T probably damaging Het
Gm3739 T A 14: 7,299,398 K86* probably null Het
Mark2 A T 19: 7,285,948 D151E probably damaging Het
Nop2 G T 6: 125,133,552 R47L probably damaging Het
Nwd1 A T 8: 72,670,951 D606V probably damaging Het
Olfr1132 T A 2: 87,635,151 I199L probably benign Het
Pcbp1 T C 6: 86,525,050 N289S probably benign Het
Plce1 T C 19: 38,524,319 S21P possibly damaging Het
Ptpn18 T C 1: 34,472,960 L55P probably benign Het
Rpl10l T C 12: 66,283,738 D207G probably benign Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Sec23b T A 2: 144,578,366 I450N possibly damaging Het
Speg A G 1: 75,428,330 E2922G probably damaging Het
Spem1 C A 11: 69,821,805 probably null Het
Stxbp3-ps A T 19: 9,559,110 noncoding transcript Het
Tmem38a C T 8: 72,572,161 P20S possibly damaging Het
Tmod2 T C 9: 75,592,584 T129A probably benign Het
Ttc28 A G 5: 111,280,172 T1845A probably benign Het
Ubqlnl C T 7: 104,149,718 V191M probably benign Het
Ush2a C T 1: 188,864,625 T3854M probably damaging Het
Vmn2r72 T A 7: 85,751,926 H95L probably benign Het
Xdh C A 17: 73,898,344 G1042V probably damaging Het
Zfp105 T A 9: 122,930,056 V264E possibly damaging Het
Other mutations in Gm7173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Gm7173 APN X 79489158 missense possibly damaging 0.87
IGL02025:Gm7173 APN X 79510430 missense probably benign 0.16
IGL02632:Gm7173 APN X 79496673 missense probably damaging 1.00
R1386:Gm7173 UTSW X 79509901 missense possibly damaging 0.54
R1551:Gm7173 UTSW X 79488645 missense probably damaging 1.00
R2121:Gm7173 UTSW X 79510321 missense probably benign 0.04
R2124:Gm7173 UTSW X 79510321 missense probably benign 0.04
R2192:Gm7173 UTSW X 79410612 missense probably damaging 1.00
R3725:Gm7173 UTSW X 79510015 missense probably damaging 0.97
R4304:Gm7173 UTSW X 79498029 missense probably damaging 1.00
R4305:Gm7173 UTSW X 79498029 missense probably damaging 1.00
R4523:Gm7173 UTSW X 79509995 missense possibly damaging 0.63
Z1088:Gm7173 UTSW X 79330813 missense probably damaging 1.00
Z1088:Gm7173 UTSW X 79330814 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAAACAAGTCTGGTTAGTGTGTAAC -3'
(R):5'- CTGACTAACTCGATTCTCCTCAAG -3'

Sequencing Primer
(F):5'- TGCTTACTTTGGGCTGAA -3'
(R):5'- AACTCGATTCTCCTCAAGTTTTG -3'
Posted On2015-08-18