Incidental Mutation 'IGL00902:Igflr1'
ID 27770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igflr1
Ensembl Gene ENSMUSG00000036826
Gene Name IGF-like family receptor 1
Synonyms F630003I17Rik, Tmem149
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00902
Quality Score
Status
Chromosome 7
Chromosomal Location 30264852-30267387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30266700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000132400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006470] [ENSMUST00000043273] [ENSMUST00000043850] [ENSMUST00000043898] [ENSMUST00000108154] [ENSMUST00000108161] [ENSMUST00000163654] [ENSMUST00000163330] [ENSMUST00000163482] [ENSMUST00000164365] [ENSMUST00000163276] [ENSMUST00000163464] [ENSMUST00000163848] [ENSMUST00000172251] [ENSMUST00000207747] [ENSMUST00000166960] [ENSMUST00000207031] [ENSMUST00000167202] [ENSMUST00000207797] [ENSMUST00000167361] [ENSMUST00000171912] [ENSMUST00000167042] [ENSMUST00000168333] [ENSMUST00000168229] [ENSMUST00000167501] [ENSMUST00000171850] [ENSMUST00000168555] [ENSMUST00000166510] [ENSMUST00000168931] [ENSMUST00000166257] [ENSMUST00000208628]
AlphaFold Q3U4N7
Predicted Effect probably benign
Transcript: ENSMUST00000006470
SMART Domains Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307

DomainStartEndE-ValueType
AT_hook 18 30 2.82e2 SMART
low complexity region 66 106 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
AT_hook 149 159 2.4e2 SMART
AT_hook 218 230 1.95e2 SMART
low complexity region 249 263 N/A INTRINSIC
low complexity region 272 302 N/A INTRINSIC
coiled coil region 353 413 N/A INTRINSIC
AT_hook 476 488 5.47e-1 SMART
low complexity region 501 517 N/A INTRINSIC
low complexity region 578 606 N/A INTRINSIC
low complexity region 621 657 N/A INTRINSIC
low complexity region 673 700 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 738 777 N/A INTRINSIC
low complexity region 910 922 N/A INTRINSIC
Pfam:zf-CXXC 963 1010 7.2e-15 PFAM
low complexity region 1039 1061 N/A INTRINSIC
low complexity region 1103 1115 N/A INTRINSIC
PHD 1209 1256 1.25e-5 SMART
PHD 1257 1307 5.4e-10 SMART
PHD 1343 1400 1.27e-6 SMART
low complexity region 1415 1427 N/A INTRINSIC
PHD 1646 1692 3.82e-1 SMART
FYRN 1745 1788 3.25e-19 SMART
low complexity region 1881 1899 N/A INTRINSIC
low complexity region 1912 1942 N/A INTRINSIC
low complexity region 1961 1978 N/A INTRINSIC
low complexity region 1991 2003 N/A INTRINSIC
low complexity region 2013 2026 N/A INTRINSIC
low complexity region 2048 2061 N/A INTRINSIC
low complexity region 2087 2105 N/A INTRINSIC
low complexity region 2127 2138 N/A INTRINSIC
low complexity region 2215 2235 N/A INTRINSIC
low complexity region 2239 2270 N/A INTRINSIC
low complexity region 2396 2406 N/A INTRINSIC
FYRC 2419 2504 4.83e-36 SMART
SET 2581 2703 1.67e-42 SMART
PostSET 2705 2721 4.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043273
SMART Domains Protein: ENSMUSP00000039406
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
RRM 66 143 5.99e-4 SMART
ZnF_C3H1 149 175 2.49e-1 SMART
low complexity region 187 219 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000043850
AA Change: S163P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042312
Gene: ENSMUSG00000036826
AA Change: S163P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 166 188 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043898
SMART Domains Protein: ENSMUSP00000044682
Gene: ENSMUSG00000036835

DomainStartEndE-ValueType
Pfam:PEN-2 7 99 2.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108154
SMART Domains Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307

DomainStartEndE-ValueType
AT_hook 18 30 2.82e2 SMART
low complexity region 66 106 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
AT_hook 149 159 2.4e2 SMART
AT_hook 218 230 1.95e2 SMART
low complexity region 249 263 N/A INTRINSIC
low complexity region 272 302 N/A INTRINSIC
coiled coil region 353 413 N/A INTRINSIC
AT_hook 476 488 5.47e-1 SMART
low complexity region 501 517 N/A INTRINSIC
low complexity region 578 606 N/A INTRINSIC
low complexity region 621 657 N/A INTRINSIC
low complexity region 673 700 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 738 777 N/A INTRINSIC
low complexity region 910 922 N/A INTRINSIC
Pfam:zf-CXXC 963 1010 1e-14 PFAM
low complexity region 1039 1061 N/A INTRINSIC
low complexity region 1103 1115 N/A INTRINSIC
PHD 1209 1256 1.25e-5 SMART
PHD 1257 1307 5.4e-10 SMART
PHD 1343 1400 1.27e-6 SMART
low complexity region 1415 1427 N/A INTRINSIC
PHD 1646 1692 3.82e-1 SMART
FYRN 1745 1788 3.25e-19 SMART
low complexity region 1872 1890 N/A INTRINSIC
low complexity region 1903 1933 N/A INTRINSIC
low complexity region 1952 1969 N/A INTRINSIC
low complexity region 1982 1994 N/A INTRINSIC
low complexity region 2004 2017 N/A INTRINSIC
low complexity region 2039 2052 N/A INTRINSIC
low complexity region 2078 2096 N/A INTRINSIC
low complexity region 2118 2129 N/A INTRINSIC
low complexity region 2206 2226 N/A INTRINSIC
low complexity region 2230 2261 N/A INTRINSIC
low complexity region 2383 2398 N/A INTRINSIC
FYRC 2411 2496 4.83e-36 SMART
SET 2573 2695 1.67e-42 SMART
PostSET 2697 2713 4.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108161
SMART Domains Protein: ENSMUSP00000103796
Gene: ENSMUSG00000109378

DomainStartEndE-ValueType
Pfam:zf-CCCH 13 39 8.8e-10 PFAM
SCOP:d1jmta_ 43 115 2e-17 SMART
PDB:1JMT|A 43 116 3e-40 PDB
Blast:RRM 45 116 2e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131002
SMART Domains Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 30 69 N/A INTRINSIC
low complexity region 202 214 N/A INTRINSIC
Pfam:zf-CXXC 255 302 5.2e-15 PFAM
low complexity region 331 353 N/A INTRINSIC
low complexity region 395 407 N/A INTRINSIC
PHD 501 548 1.25e-5 SMART
PHD 549 599 5.4e-10 SMART
PHD 635 692 1.27e-6 SMART
low complexity region 707 719 N/A INTRINSIC
PHD 938 984 3.82e-1 SMART
FYRN 1037 1080 3.25e-19 SMART
low complexity region 1173 1191 N/A INTRINSIC
low complexity region 1204 1234 N/A INTRINSIC
low complexity region 1253 1270 N/A INTRINSIC
low complexity region 1283 1295 N/A INTRINSIC
low complexity region 1305 1318 N/A INTRINSIC
low complexity region 1340 1353 N/A INTRINSIC
low complexity region 1379 1397 N/A INTRINSIC
low complexity region 1419 1430 N/A INTRINSIC
low complexity region 1507 1527 N/A INTRINSIC
low complexity region 1531 1562 N/A INTRINSIC
low complexity region 1684 1699 N/A INTRINSIC
FYRC 1712 1797 4.83e-36 SMART
SET 1874 1996 1.67e-42 SMART
PostSET 1998 2014 4.65e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164438
Predicted Effect probably benign
Transcript: ENSMUST00000163654
SMART Domains Protein: ENSMUSP00000131048
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
Pfam:zf-CCCH 13 39 1.3e-9 PFAM
RRM 66 143 5.99e-4 SMART
low complexity region 167 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163330
SMART Domains Protein: ENSMUSP00000129385
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
RRM 39 116 5.99e-4 SMART
Pfam:zf-CCCH 122 148 4.9e-8 PFAM
low complexity region 160 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163482
SMART Domains Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
low complexity region 34 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164365
Predicted Effect probably benign
Transcript: ENSMUST00000163276
Predicted Effect probably benign
Transcript: ENSMUST00000165722
SMART Domains Protein: ENSMUSP00000125790
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
Pfam:zf-CCCH 1 26 4.7e-10 PFAM
PDB:1JMT|A 30 51 2e-6 PDB
SCOP:d1jmta_ 30 51 5e-3 SMART
Blast:RRM 32 53 7e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000163464
SMART Domains Protein: ENSMUSP00000125959
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
RRM 66 143 5.99e-4 SMART
ZnF_C3H1 149 171 3.95e1 SMART
low complexity region 183 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163848
Predicted Effect possibly damaging
Transcript: ENSMUST00000172251
AA Change: S183P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132400
Gene: ENSMUSG00000036826
AA Change: S183P

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
low complexity region 267 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207747
Predicted Effect probably benign
Transcript: ENSMUST00000166960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170453
Predicted Effect probably benign
Transcript: ENSMUST00000207031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169962
Predicted Effect probably benign
Transcript: ENSMUST00000167202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165773
Predicted Effect probably benign
Transcript: ENSMUST00000207797
Predicted Effect probably benign
Transcript: ENSMUST00000167361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167024
Predicted Effect probably benign
Transcript: ENSMUST00000171912
SMART Domains Protein: ENSMUSP00000130983
Gene: ENSMUSG00000109378

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
RRM 66 143 5.99e-4 SMART
ZnF_C3H1 149 175 2.49e-1 SMART
low complexity region 187 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167042
SMART Domains Protein: ENSMUSP00000128886
Gene: ENSMUSG00000109378

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
RRM 66 143 5.99e-4 SMART
ZnF_C3H1 149 175 2.49e-1 SMART
low complexity region 187 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168333
SMART Domains Protein: ENSMUSP00000128950
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
Pfam:zf-CCCH 13 39 4.8e-10 PFAM
PDB:1JMT|A 43 94 5e-21 PDB
SCOP:d1jmta_ 43 94 2e-9 SMART
Blast:RRM 45 94 5e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000168229
Predicted Effect probably benign
Transcript: ENSMUST00000167501
Predicted Effect probably benign
Transcript: ENSMUST00000171850
SMART Domains Protein: ENSMUSP00000131781
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
PDB:1JMT|A 43 113 1e-16 PDB
SCOP:d1jmta_ 43 113 1e-9 SMART
Blast:RRM 45 110 3e-17 BLAST
ZnF_C3H1 116 142 2.49e-1 SMART
low complexity region 154 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168555
Predicted Effect probably benign
Transcript: ENSMUST00000166510
SMART Domains Protein: ENSMUSP00000132316
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
RRM 45 133 2.51e-6 SMART
ZnF_C3H1 139 165 2.49e-1 SMART
low complexity region 177 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168931
SMART Domains Protein: ENSMUSP00000129697
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
RRM 44 119 4.14e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166257
SMART Domains Protein: ENSMUSP00000125838
Gene: ENSMUSG00000078765

DomainStartEndE-ValueType
ZnF_C3H1 13 39 4.79e-3 SMART
RRM 33 104 2.35e-2 SMART
ZnF_C3H1 110 136 2.49e-1 SMART
low complexity region 148 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209110
Predicted Effect probably benign
Transcript: ENSMUST00000208628
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T G 9: 90,070,847 (GRCm39) probably null Het
Akap11 A G 14: 78,733,278 (GRCm39) S1876P probably benign Het
Bltp1 G A 3: 37,095,494 (GRCm39) G1001D probably damaging Het
Capn10 A G 1: 92,870,281 (GRCm39) I256V probably benign Het
Catsperg2 T A 7: 29,400,568 (GRCm39) H262L possibly damaging Het
Col22a1 C A 15: 71,836,508 (GRCm39) G509V probably damaging Het
Dab2ip T C 2: 35,607,124 (GRCm39) F523S probably damaging Het
Dbnl G T 11: 5,748,105 (GRCm39) A313S probably benign Het
Ddo T C 10: 40,523,550 (GRCm39) V180A probably damaging Het
Enox1 A G 14: 77,819,844 (GRCm39) M200V possibly damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Gm9104 T C 17: 45,776,940 (GRCm39) probably benign Het
Gspt1 C T 16: 11,050,443 (GRCm39) V303I probably damaging Het
Igf2r C T 17: 12,919,245 (GRCm39) C1469Y probably damaging Het
Itga6 T C 2: 71,679,738 (GRCm39) V1001A probably benign Het
Itih1 G A 14: 30,654,439 (GRCm39) probably benign Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrp5 T C 19: 3,650,774 (GRCm39) N1220S probably damaging Het
Marchf6 A G 15: 31,485,124 (GRCm39) Y434H probably damaging Het
Mbd1 A G 18: 74,408,310 (GRCm39) Y211C possibly damaging Het
Mpeg1 C A 19: 12,439,133 (GRCm39) A197D probably damaging Het
Mroh2b T A 15: 4,944,704 (GRCm39) L435Q probably damaging Het
Mss51 A C 14: 20,536,235 (GRCm39) M160R probably damaging Het
Ndufs7 T G 10: 80,091,839 (GRCm39) Y190* probably null Het
Or6c38 T A 10: 128,929,265 (GRCm39) I193L probably benign Het
Or9g4b T C 2: 85,616,461 (GRCm39) M202T probably benign Het
Pcdh17 A G 14: 84,684,289 (GRCm39) E252G probably damaging Het
Ric1 T C 19: 29,544,631 (GRCm39) V151A probably benign Het
Sgo2a A G 1: 58,055,258 (GRCm39) T481A probably benign Het
Slc5a8 A G 10: 88,755,323 (GRCm39) T477A probably benign Het
Smg5 G A 3: 88,260,392 (GRCm39) V661I probably benign Het
Snx19 A T 9: 30,340,028 (GRCm39) I389F possibly damaging Het
Spem1 A T 11: 69,712,643 (GRCm39) I64N probably damaging Het
Thada A T 17: 84,755,404 (GRCm39) M262K probably damaging Het
Uox A G 3: 146,316,161 (GRCm39) D32G possibly damaging Het
Usp42 A T 5: 143,705,629 (GRCm39) probably benign Het
Usp43 G A 11: 67,782,245 (GRCm39) P391L probably benign Het
Vmn2r56 T C 7: 12,449,426 (GRCm39) S271G probably benign Het
Wdr64 T A 1: 175,556,391 (GRCm39) C213S probably damaging Het
Zfp26 A T 9: 20,350,844 (GRCm39) S194T possibly damaging Het
Other mutations in Igflr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2209:Igflr1 UTSW 7 30,267,222 (GRCm39) missense probably damaging 0.97
R5451:Igflr1 UTSW 7 30,265,747 (GRCm39) missense possibly damaging 0.66
R7560:Igflr1 UTSW 7 30,266,776 (GRCm39) missense possibly damaging 0.66
R8939:Igflr1 UTSW 7 30,266,888 (GRCm39) frame shift probably null
R9751:Igflr1 UTSW 7 30,266,653 (GRCm39) missense possibly damaging 0.46
Posted On 2013-04-17