Incidental Mutation 'R4805:Gm14403'
ID370608
Institutional Source Beutler Lab
Gene Symbol Gm14403
Ensembl Gene ENSMUSG00000094786
Gene Namepredicted gene 14403
Synonyms
MMRRC Submission 041999-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #R4805 (G1)
Quality Score135
Status Validated
Chromosome2
Chromosomal Location177498215-177509763 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 177508699 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 146 (L146P)
Ref Sequence ENSEMBL: ENSMUSP00000104575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108940] [ENSMUST00000108947]
Predicted Effect probably benign
Transcript: ENSMUST00000108940
SMART Domains Protein: ENSMUSP00000104568
Gene: ENSMUSG00000094786

DomainStartEndE-ValueType
internal_repeat_1 1 73 1.34e-11 PROSPERO
internal_repeat_1 169 241 1.34e-11 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000108947
AA Change: L146P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104575
Gene: ENSMUSG00000094786
AA Change: L146P

DomainStartEndE-ValueType
KRAB 4 66 4.86e-13 SMART
ZnF_C2H2 76 97 2.31e2 SMART
ZnF_C2H2 103 125 1.2e-3 SMART
ZnF_C2H2 131 153 1.18e-2 SMART
ZnF_C2H2 159 179 4.57e0 SMART
ZnF_C2H2 187 209 5.59e-4 SMART
ZnF_C2H2 215 237 1.12e-3 SMART
ZnF_C2H2 243 265 1.18e-2 SMART
ZnF_C2H2 271 293 8.6e-5 SMART
ZnF_C2H2 299 321 3.16e-3 SMART
ZnF_C2H2 327 349 1.84e-4 SMART
ZnF_C2H2 355 377 3.44e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142549
Meta Mutation Damage Score 0.5283 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik T A 15: 84,417,196 H82L probably damaging Het
4930407I10Rik T A 15: 82,066,427 Y1508* probably null Het
4931414P19Rik T C 14: 54,595,454 E88G probably benign Het
Acaa1b A G 9: 119,156,946 S17P probably benign Het
Arhgef7 G A 8: 11,831,552 E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 118,121,899 probably benign Het
Bpnt1 T A 1: 185,345,307 probably null Het
Ccnt1 C T 15: 98,544,308 V360I probably benign Het
Chd4 T C 6: 125,128,945 S1829P possibly damaging Het
Dennd1b A T 1: 139,053,384 N112I probably damaging Het
Fat2 A T 11: 55,283,979 D1969E probably benign Het
Flywch1 A C 17: 23,760,617 D394E probably benign Het
Gal3st4 T A 5: 138,265,471 probably null Het
Gm5283 G T 3: 17,230,959 noncoding transcript Het
Gpr161 T A 1: 165,306,460 L97Q probably damaging Het
Gstm2 A T 3: 107,985,095 M105K possibly damaging Het
Hecw2 A G 1: 53,840,859 Y1264H probably damaging Het
Ifi206 T A 1: 173,481,386 Q348L possibly damaging Het
Ighv1-83 A T 12: 115,963,869 M87K possibly damaging Het
Ighv2-7 A T 12: 113,807,534 S44T probably damaging Het
Ipo7 T A 7: 110,051,484 N884K probably benign Het
Itga2b T C 11: 102,467,866 N75S probably benign Het
Krt20 A G 11: 99,428,985 V431A unknown Het
Krt24 A T 11: 99,283,626 I205N possibly damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Lrrc31 A T 3: 30,691,297 L67* probably null Het
Lrrc37a A G 11: 103,504,309 F97L probably benign Het
Mapkap1 G A 2: 34,597,422 probably null Het
Mgat4d T G 8: 83,358,158 probably null Het
Mrgprb3 C T 7: 48,643,306 V166I probably benign Het
Myh11 T A 16: 14,234,465 Q379L possibly damaging Het
Myh7 T C 14: 54,985,133 S782G probably benign Het
Nobox T C 6: 43,305,119 D340G probably damaging Het
Ntn4 C T 10: 93,644,500 R29C probably damaging Het
Olfr1453 T A 19: 13,028,297 I11F probably benign Het
Olfr329-ps G A 11: 58,542,570 T315I probably benign Het
Pikfyve T A 1: 65,268,800 I1845N probably damaging Het
Pramef20 A G 4: 144,377,020 Y179H probably benign Het
Rad21l T G 2: 151,668,007 H58P probably damaging Het
Scnn1g T C 7: 121,746,602 L316S probably damaging Het
Serpina5 G A 12: 104,102,201 V174I probably damaging Het
Shank1 T C 7: 44,343,711 S788P unknown Het
Snap47 A G 11: 59,428,517 V265A possibly damaging Het
Steap3 T A 1: 120,243,886 H163L probably benign Het
Sycp2 T C 2: 178,393,961 probably benign Het
Tet2 A G 3: 133,467,315 F1729L probably benign Het
Thsd7b T C 1: 130,188,539 V1343A probably benign Het
Thumpd2 G A 17: 81,026,701 T486I probably damaging Het
Ttc41 G T 10: 86,729,798 M405I possibly damaging Het
Ttn T C 2: 76,747,529 D24340G probably damaging Het
Vmn1r10 T G 6: 57,113,617 F65V possibly damaging Het
Vmn2r118 G T 17: 55,592,581 D774E probably damaging Het
Vmn2r13 C T 5: 109,156,465 C700Y probably damaging Het
Wsb1 A C 11: 79,240,391 M393R possibly damaging Het
Zmat3 A G 3: 32,343,355 Y214H probably benign Het
Zswim3 C T 2: 164,820,179 T193I possibly damaging Het
Other mutations in Gm14403
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01835:Gm14403 APN 2 177507256 missense probably damaging 0.99
IGL02660:Gm14403 APN 2 177509464 missense probably damaging 1.00
R0492:Gm14403 UTSW 2 177508566 missense probably benign 0.09
R0932:Gm14403 UTSW 2 177507017 missense probably benign 0.01
R0975:Gm14403 UTSW 2 177509424 missense probably damaging 1.00
R1468:Gm14403 UTSW 2 177507231 splice site probably benign
R1853:Gm14403 UTSW 2 177509139 missense probably damaging 1.00
R3011:Gm14403 UTSW 2 177508993 missense probably benign
R3803:Gm14403 UTSW 2 177508776 missense probably benign 0.04
R4589:Gm14403 UTSW 2 177508635 missense probably benign 0.29
R5085:Gm14403 UTSW 2 177508489 missense probably benign 0.04
R5311:Gm14403 UTSW 2 177509655 unclassified probably benign
R5425:Gm14403 UTSW 2 177509655 unclassified probably benign
R5643:Gm14403 UTSW 2 177507261 missense possibly damaging 0.87
R5644:Gm14403 UTSW 2 177507261 missense possibly damaging 0.87
R5739:Gm14403 UTSW 2 177509247 missense probably damaging 1.00
R5982:Gm14403 UTSW 2 177508552 missense probably damaging 0.98
R6197:Gm14403 UTSW 2 177509655 unclassified probably benign
R6198:Gm14403 UTSW 2 177509655 unclassified probably benign
R6892:Gm14403 UTSW 2 177509247 missense probably damaging 1.00
R7090:Gm14403 UTSW 2 177509321 missense possibly damaging 0.87
R7168:Gm14403 UTSW 2 177509525 missense probably damaging 0.96
R7510:Gm14403 UTSW 2 177508610 missense probably benign 0.01
R7623:Gm14403 UTSW 2 177508612 missense probably benign
R8049:Gm14403 UTSW 2 177508518 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCTTTGCATATGAGAGTCGTAGTC -3'
(R):5'- CCACATTGGTTACATTCATACCG -3'

Sequencing Primer
(F):5'- TATGAGAGTCGTAGTCAAAGGCATC -3'
(R):5'- CGCTTATGTATTCGGAGATGACTGC -3'
Posted On2016-02-04