Incidental Mutation 'R4864:Unc5cl'
ID 374788
Institutional Source Beutler Lab
Gene Symbol Unc5cl
Ensembl Gene ENSMUSG00000043592
Gene Name unc-5 family C-terminal like
Synonyms 2510009H09Rik
MMRRC Submission 042474-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4864 (G1)
Quality Score 208
Status Validated
Chromosome 17
Chromosomal Location 48761929-48846742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48766872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 82 (E82G)
Ref Sequence ENSEMBL: ENSMUSP00000074159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074574] [ENSMUST00000161418] [ENSMUST00000162132] [ENSMUST00000162313]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000074574
AA Change: E82G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074159
Gene: ENSMUSG00000043592
AA Change: E82G

DomainStartEndE-ValueType
Pfam:ZU5 103 195 5.9e-28 PFAM
DEATH 402 491 1.35e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161418
Predicted Effect probably benign
Transcript: ENSMUST00000161587
Predicted Effect probably benign
Transcript: ENSMUST00000162132
Predicted Effect probably benign
Transcript: ENSMUST00000162313
Predicted Effect probably benign
Transcript: ENSMUST00000162467
Meta Mutation Damage Score 0.1186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (93/94)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Acp6 T C 3: 97,066,683 (GRCm39) probably null Het
Adora3 T A 3: 105,815,131 (GRCm39) Y148N probably damaging Het
Ahnak2 G A 12: 112,740,040 (GRCm39) S538L probably damaging Het
Aox3 T G 1: 58,215,646 (GRCm39) V1026G probably damaging Het
Ap3d1 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 10: 80,548,612 (GRCm39) probably null Het
Arhgef37 G A 18: 61,627,996 (GRCm39) A649V probably benign Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Bace1 A T 9: 45,766,109 (GRCm39) I179F probably damaging Het
Brinp1 A G 4: 68,717,123 (GRCm39) F242L probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Ccdc74a A G 16: 17,466,736 (GRCm39) T148A probably benign Het
Cenpc1 T A 5: 86,193,180 (GRCm39) L236F probably damaging Het
Col13a1 C T 10: 61,698,439 (GRCm39) E541K unknown Het
Copg1 T A 6: 87,866,678 (GRCm39) C44S probably damaging Het
D130043K22Rik A G 13: 25,047,595 (GRCm39) E380G probably damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dgkd A T 1: 87,844,560 (GRCm39) N242I possibly damaging Het
Dnah2 C T 11: 69,313,416 (GRCm39) V4248I probably damaging Het
Dpy19l3 T A 7: 35,411,607 (GRCm39) K376* probably null Het
Eef1d A G 15: 75,775,255 (GRCm39) S135P possibly damaging Het
Epc2 T A 2: 49,427,177 (GRCm39) S574T probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Eps8 T C 6: 137,455,967 (GRCm39) probably benign Het
Exoc5 A T 14: 49,289,839 (GRCm39) V13E probably benign Het
Fbn1 A T 2: 125,214,317 (GRCm39) C765S possibly damaging Het
Fbxo5 A T 10: 5,752,392 (GRCm39) C74S probably benign Het
Fbxw9 T C 8: 85,792,530 (GRCm39) S322P probably damaging Het
Fmo5 T A 3: 97,553,195 (GRCm39) I381N probably damaging Het
Fmo6 T C 1: 162,751,964 (GRCm39) D175G probably benign Het
Gm7361 A G 5: 26,467,008 (GRCm39) probably null Het
Gm9961 G A 16: 11,720,899 (GRCm39) probably benign Het
Golga7b T A 19: 42,255,405 (GRCm39) probably null Het
Gorab T C 1: 163,213,967 (GRCm39) E321G probably benign Het
Gpx1 T A 9: 108,216,594 (GRCm39) V28E probably benign Het
H2-T15 T A 17: 36,369,253 (GRCm39) probably benign Het
H3c14 T C 3: 96,154,575 (GRCm39) I125T probably damaging Het
Hk1 T C 10: 62,178,318 (GRCm39) S8G probably benign Het
Iqsec1 C T 6: 90,641,038 (GRCm39) R1026H probably damaging Het
Kdm4b A T 17: 56,660,091 (GRCm39) Y86F probably benign Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Lamb1 C T 12: 31,371,005 (GRCm39) T1400M probably benign Het
Lcor G T 19: 41,573,803 (GRCm39) A853S probably benign Het
Lrriq3 T A 3: 154,893,447 (GRCm39) Y383N possibly damaging Het
Map3k21 T C 8: 126,654,294 (GRCm39) I371T probably benign Het
Mllt1 A T 17: 57,212,819 (GRCm39) F105I probably damaging Het
Nfatc2 A G 2: 168,378,312 (GRCm39) M451T probably damaging Het
Nfkbiz A C 16: 55,638,787 (GRCm39) N224K probably damaging Het
Nlrp4d A G 7: 10,115,088 (GRCm39) V531A noncoding transcript Het
Noc3l A G 19: 38,778,081 (GRCm39) Y778H probably benign Het
Nup98 C A 7: 101,802,403 (GRCm39) A734S possibly damaging Het
Or2ag18 T C 7: 106,405,171 (GRCm39) Y166C probably damaging Het
Or4k2 T A 14: 50,424,039 (GRCm39) I212F probably damaging Het
Or9g20 A G 2: 85,630,033 (GRCm39) Y194H probably damaging Het
Or9r7 T A 10: 129,962,756 (GRCm39) R57* probably null Het
Pate4 A T 9: 35,519,535 (GRCm39) C52S probably damaging Het
Pecr C A 1: 72,316,490 (GRCm39) A72S probably benign Het
Pomt1 A G 2: 32,142,004 (GRCm39) N578S probably benign Het
Ppm1a T C 12: 72,830,738 (GRCm39) S88P probably benign Het
Ppm1l T A 3: 69,449,844 (GRCm39) probably benign Het
Prdm13 A G 4: 21,685,543 (GRCm39) S86P unknown Het
Prph2 T C 17: 47,221,848 (GRCm39) S76P probably benign Het
Sarnp G A 10: 128,669,212 (GRCm39) R23H probably damaging Het
Septin1 T C 7: 126,816,064 (GRCm39) probably benign Het
Serpini1 T C 3: 75,520,481 (GRCm39) I26T probably benign Het
Setdb2 A G 14: 59,646,715 (GRCm39) I616T probably benign Het
Slc2a10 T C 2: 165,356,541 (GRCm39) F67S probably benign Het
Slc38a6 T A 12: 73,390,424 (GRCm39) probably null Het
Smg6 T C 11: 74,820,988 (GRCm39) S420P possibly damaging Het
Srp72 T A 5: 77,132,009 (GRCm39) H229Q probably benign Het
Ston2 A G 12: 91,615,448 (GRCm39) V320A possibly damaging Het
Stx3 A T 19: 11,754,515 (GRCm39) I269N possibly damaging Het
Tdg-ps A G 15: 82,400,843 (GRCm39) noncoding transcript Het
Tecpr1 T A 5: 144,150,935 (GRCm39) N291I probably benign Het
Tmem177 A G 1: 119,838,553 (GRCm39) V42A probably benign Het
Trim26 T A 17: 37,168,886 (GRCm39) probably benign Het
Ttc17 A G 2: 94,196,980 (GRCm39) S456P probably benign Het
Tubgcp6 T C 15: 88,988,021 (GRCm39) Y984C probably benign Het
Uncx T C 5: 139,529,875 (GRCm39) S43P probably damaging Het
Vmn1r1 A G 1: 181,985,332 (GRCm39) V111A probably benign Het
Vmn1r168 A G 7: 23,240,907 (GRCm39) I255V probably damaging Het
Vwce A G 19: 10,628,000 (GRCm39) T487A probably benign Het
Xaf1 A G 11: 72,197,682 (GRCm39) probably benign Het
Zfp27 G T 7: 29,594,261 (GRCm39) P568Q probably damaging Het
Zfp382 A T 7: 29,832,885 (GRCm39) I179F possibly damaging Het
Other mutations in Unc5cl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Unc5cl APN 17 48,766,991 (GRCm39) missense probably damaging 1.00
IGL02227:Unc5cl APN 17 48,766,809 (GRCm39) missense probably benign 0.44
IGL03013:Unc5cl APN 17 48,772,049 (GRCm39) missense possibly damaging 0.74
R0960:Unc5cl UTSW 17 48,766,624 (GRCm39) unclassified probably benign
R2255:Unc5cl UTSW 17 48,766,974 (GRCm39) missense possibly damaging 0.59
R3821:Unc5cl UTSW 17 48,767,001 (GRCm39) missense possibly damaging 0.95
R4177:Unc5cl UTSW 17 48,769,298 (GRCm39) missense probably benign 0.06
R4469:Unc5cl UTSW 17 48,766,833 (GRCm39) missense possibly damaging 0.57
R6539:Unc5cl UTSW 17 48,772,045 (GRCm39) missense probably damaging 0.96
R8115:Unc5cl UTSW 17 48,774,438 (GRCm39) missense possibly damaging 0.59
R8963:Unc5cl UTSW 17 48,769,361 (GRCm39) missense probably benign
R9234:Unc5cl UTSW 17 48,770,658 (GRCm39) missense probably damaging 1.00
R9467:Unc5cl UTSW 17 48,770,656 (GRCm39) missense probably damaging 0.96
Z1177:Unc5cl UTSW 17 48,767,579 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCTCTGTTCAACCTTCC -3'
(R):5'- AGAAGTCCTTGCCCAGAAGG -3'

Sequencing Primer
(F):5'- ATCCCTGTGGCCAGTGCTC -3'
(R):5'- TTGCCCAGAAGGAGGCTG -3'
Posted On 2016-03-17