Incidental Mutation 'R4988:Gm10717'
ID 444511
Institutional Source Beutler Lab
Gene Symbol Gm10717
Ensembl Gene ENSMUSG00000095891
Gene Name predicted gene 10717
Synonyms
MMRRC Submission 042582-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # R4988 (G1)
Quality Score 24
Status Validated
Chromosome 9
Chromosomal Location 3025417-3033289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3026368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 72 (L72M)
Ref Sequence ENSEMBL: ENSMUSP00000136755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099042] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000179982] [ENSMUST00000177875] [ENSMUST00000179264]
AlphaFold D3Z1I8
Predicted Effect probably benign
Transcript: ENSMUST00000075573
AA Change: L222H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
AA Change: L222H

DomainStartEndE-ValueType
internal_repeat_1 1 41 1.06e-10 PROSPERO
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 177 1.06e-10 PROSPERO
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099042
SMART Domains Protein: ENSMUSP00000096640
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 47 9.09e-8 PROSPERO
transmembrane domain 76 98 N/A INTRINSIC
internal_repeat_1 117 164 9.09e-8 PROSPERO
transmembrane domain 195 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099046
SMART Domains Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186

DomainStartEndE-ValueType
internal_repeat_1 1 41 4.44e-7 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 177 4.44e-7 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099047
SMART Domains Protein: ENSMUSP00000096646
Gene: ENSMUSG00000095547

DomainStartEndE-ValueType
internal_repeat_1 1 40 1.58e-10 PROSPERO
transmembrane domain 53 72 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
internal_repeat_1 117 176 1.58e-10 PROSPERO
transmembrane domain 199 221 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099051
SMART Domains Protein: ENSMUSP00000096650
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 2 38 6.22e-5 PROSPERO
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
internal_repeat_1 118 174 6.22e-5 PROSPERO
transmembrane domain 185 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177601
AA Change: L72M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136755
Gene: ENSMUSG00000095891
AA Change: L72M

DomainStartEndE-ValueType
internal_repeat_2 1 24 2.26e-6 PROSPERO
internal_repeat_1 2 37 2.26e-6 PROSPERO
internal_repeat_1 40 95 2.26e-6 PROSPERO
internal_repeat_2 118 142 2.26e-6 PROSPERO
low complexity region 147 159 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181572
Predicted Effect probably benign
Transcript: ENSMUST00000179982
SMART Domains Protein: ENSMUSP00000136365
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 35 7.76e-13 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 152 7.76e-13 PROSPERO
low complexity region 157 169 N/A INTRINSIC
transmembrane domain 198 220 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177875
SMART Domains Protein: ENSMUSP00000137419
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 49 1.49e-11 PROSPERO
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 186 1.49e-11 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179264
SMART Domains Protein: ENSMUSP00000137451
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 43 5.09e-6 PROSPERO
transmembrane domain 69 91 N/A INTRINSIC
internal_repeat_1 117 179 5.09e-6 PROSPERO
transmembrane domain 196 218 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 G A 1: 130,670,447 (GRCm39) G223E probably damaging Het
Abcb11 T C 2: 69,154,236 (GRCm39) N110S probably benign Het
Acaca T A 11: 84,154,121 (GRCm39) H947Q probably damaging Het
Akap13 T C 7: 75,380,276 (GRCm39) M2202T probably damaging Het
Amy2b T C 3: 113,058,550 (GRCm39) noncoding transcript Het
Arhgef4 A T 1: 34,762,535 (GRCm39) H597L unknown Het
Asgr2 A G 11: 69,988,665 (GRCm39) I119M probably benign Het
Casc3 T G 11: 98,712,700 (GRCm39) probably null Het
Cbr1b A G 16: 93,426,884 (GRCm39) T162A probably benign Het
Ccdc7b T A 8: 129,872,013 (GRCm39) M239K possibly damaging Het
Cdc27 A G 11: 104,416,950 (GRCm39) S334P possibly damaging Het
Ces1c T C 8: 93,827,336 (GRCm39) E476G probably damaging Het
Clec3a T A 8: 115,144,827 (GRCm39) M1K probably null Het
Col9a1 T C 1: 24,224,273 (GRCm39) S152P unknown Het
Cpd A G 11: 76,705,656 (GRCm39) S359P probably damaging Het
Ctnnal1 A T 4: 56,847,854 (GRCm39) L95* probably null Het
Dhx57 T C 17: 80,558,827 (GRCm39) D1044G probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Efcab5 A G 11: 77,028,078 (GRCm39) S418P probably damaging Het
Elp5 T C 11: 69,870,668 (GRCm39) D59G probably benign Het
Fam210a G A 18: 68,409,218 (GRCm39) R31C probably benign Het
Farp1 A G 14: 121,513,019 (GRCm39) T792A probably damaging Het
Fmc1 A T 6: 38,511,917 (GRCm39) Y37F probably benign Het
Gm1758 A T 16: 14,320,067 (GRCm39) noncoding transcript Het
Gm4553 G A 7: 141,718,729 (GRCm39) probably benign Het
Gpr156 A G 16: 37,768,577 (GRCm39) T33A possibly damaging Het
Hhat A T 1: 192,339,602 (GRCm39) probably benign Het
Hint2 T C 4: 43,654,953 (GRCm39) I59V possibly damaging Het
Hps4 C T 5: 112,526,019 (GRCm39) probably benign Het
Hsd17b8 A G 17: 34,246,262 (GRCm39) F137S probably damaging Het
Klrc2 A T 6: 129,633,426 (GRCm39) C192S probably benign Het
Map1a C T 2: 121,133,531 (GRCm39) T1211I probably benign Het
Mtus1 T C 8: 41,537,578 (GRCm39) N46S probably benign Het
Myo18a T C 11: 77,736,347 (GRCm39) probably null Het
Nbas T C 12: 13,458,266 (GRCm39) S1258P probably benign Het
Ndst1 C T 18: 60,836,005 (GRCm39) G426D probably damaging Het
Nepro A G 16: 44,554,905 (GRCm39) E327G possibly damaging Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or10s1 G A 9: 39,985,961 (GRCm39) M123I probably damaging Het
Or1j18 T C 2: 36,624,996 (GRCm39) I221T possibly damaging Het
Or2m13 A T 16: 19,225,860 (GRCm39) M302K probably benign Het
Or6c66 T C 10: 129,461,930 (GRCm39) probably null Het
Pcdhb15 G A 18: 37,608,855 (GRCm39) A696T probably damaging Het
Polm C A 11: 5,787,618 (GRCm39) R45L probably damaging Het
Pon3 G A 6: 5,254,582 (GRCm39) R27* probably null Het
Proser1 T C 3: 53,387,046 (GRCm39) I845T probably damaging Het
Rassf8 A G 6: 145,762,870 (GRCm39) N406D possibly damaging Het
Skint10 A T 4: 112,586,069 (GRCm39) C182* probably null Het
Slc6a19 C T 13: 73,833,959 (GRCm39) W366* probably null Het
St7 T C 6: 17,934,225 (GRCm39) F470L probably damaging Het
St8sia4 T A 1: 95,519,522 (GRCm39) Y322F possibly damaging Het
Trav8n-2 A T 14: 53,975,814 (GRCm39) probably benign Het
Vwa8 A T 14: 79,435,723 (GRCm39) H1811L probably benign Het
Zfp14 G A 7: 29,737,482 (GRCm39) T501I probably benign Het
Other mutations in Gm10717
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Gm10717 APN 9 3,025,506 (GRCm39) missense possibly damaging 0.46
IGL01635:Gm10717 APN 9 3,025,511 (GRCm39) missense probably damaging 1.00
IGL01864:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01865:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01865:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01866:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01873:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01875:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01877:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01877:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01878:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01879:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01880:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01882:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01886:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01887:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01892:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01893:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01897:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01901:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01903:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01904:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01907:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01907:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01908:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01913:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01919:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01920:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01923:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01925:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01927:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01930:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01931:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01932:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01935:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01941:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01948:Gm10717 APN 9 3,025,819 (GRCm39) missense probably damaging 1.00
IGL01949:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01951:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01952:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL02106:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL02142:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL02592:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL02609:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL02802:Gm10717 UTSW 9 3,031,999 (GRCm39) missense probably benign
R0277:Gm10717 UTSW 9 3,025,619 (GRCm39) missense possibly damaging 0.79
R1813:Gm10717 UTSW 9 3,026,317 (GRCm39) missense probably damaging 1.00
R1911:Gm10717 UTSW 9 3,026,317 (GRCm39) missense probably damaging 1.00
R2399:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R2874:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R3617:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R3720:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R5002:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R5117:Gm10717 UTSW 9 3,025,625 (GRCm39) missense probably benign 0.00
R5367:Gm10717 UTSW 9 3,026,317 (GRCm39) missense probably damaging 1.00
R5539:Gm10717 UTSW 9 3,030,438 (GRCm39) missense probably damaging 1.00
R5623:Gm10717 UTSW 9 3,026,318 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCATATTCCATGTCCTACTGTG -3'
(R):5'- CCTGGAATATGGCAAGAAAACTGAA -3'

Sequencing Primer
(F):5'- CCATGTCCTACTGTGGAAATTTC -3'
(R):5'- TCCACTGTAGGACATGAAATATGGC -3'
Posted On 2016-11-11