Incidental Mutation 'R5431:Igfbpl1'
ID 501045
Institutional Source Beutler Lab
Gene Symbol Igfbpl1
Ensembl Gene ENSMUSG00000035551
Gene Name insulin-like growth factor binding protein-like 1
Synonyms 2810011G06Rik, 2810453O06Rik, IGFBP-like protein
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 45809507-45826827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45815588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 183 (V183I)
Ref Sequence ENSEMBL: ENSMUSP00000036974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044297]
AlphaFold Q80W15
Predicted Effect probably benign
Transcript: ENSMUST00000044297
AA Change: V183I

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036974
Gene: ENSMUSG00000035551
AA Change: V183I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IB 28 100 1.31e-3 SMART
KAZAL 82 143 6.59e-14 SMART
IGc2 159 242 5.04e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145102
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly damaging Het
Other mutations in Igfbpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Igfbpl1 APN 4 45,826,478 (GRCm39) missense probably damaging 0.99
IGL03339:Igfbpl1 APN 4 45,813,555 (GRCm39) splice site probably benign
PIT1430001:Igfbpl1 UTSW 4 45,826,756 (GRCm39) missense unknown
PIT4504001:Igfbpl1 UTSW 4 45,813,469 (GRCm39) missense possibly damaging 0.86
R1824:Igfbpl1 UTSW 4 45,826,406 (GRCm39) missense probably benign 0.19
R2655:Igfbpl1 UTSW 4 45,816,289 (GRCm39) missense probably damaging 0.96
R3850:Igfbpl1 UTSW 4 45,826,426 (GRCm39) missense probably benign 0.02
R5695:Igfbpl1 UTSW 4 45,826,374 (GRCm39) missense probably damaging 1.00
R6229:Igfbpl1 UTSW 4 45,813,517 (GRCm39) missense probably damaging 1.00
R6613:Igfbpl1 UTSW 4 45,813,447 (GRCm39) missense probably benign 0.00
R6950:Igfbpl1 UTSW 4 45,815,494 (GRCm39) missense probably damaging 1.00
R6954:Igfbpl1 UTSW 4 45,826,663 (GRCm39) missense probably damaging 1.00
R6971:Igfbpl1 UTSW 4 45,816,333 (GRCm39) missense possibly damaging 0.72
R7558:Igfbpl1 UTSW 4 45,813,497 (GRCm39) missense probably damaging 1.00
R7976:Igfbpl1 UTSW 4 45,826,786 (GRCm39) missense unknown
R8675:Igfbpl1 UTSW 4 45,813,469 (GRCm39) missense possibly damaging 0.86
R9354:Igfbpl1 UTSW 4 45,816,348 (GRCm39) missense probably damaging 1.00
R9394:Igfbpl1 UTSW 4 45,826,792 (GRCm39) start codon destroyed probably null
R9598:Igfbpl1 UTSW 4 45,815,472 (GRCm39) missense probably null 0.98
Predicted Primers PCR Primer
(F):5'- CCAAGAAACAGCTTCAGATGTG -3'
(R):5'- TGGCAAAATTTCCAGCAGGG -3'

Sequencing Primer
(F):5'- CAGCTTCAGATGTGTAACATGTCG -3'
(R):5'- GGGGCACTGTCCCAATAGATAC -3'
Posted On 2017-12-01