Incidental Mutation 'R8191:1700037C18Rik'
ID 635181
Institutional Source Beutler Lab
Gene Symbol 1700037C18Rik
Ensembl Gene ENSMUSG00000005983
Gene Name RIKEN cDNA 1700037C18 gene
Synonyms
MMRRC Submission 067614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8191 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 3723662-3726553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3724918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 49 (R49W)
Ref Sequence ENSEMBL: ENSMUSP00000111525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006138] [ENSMUST00000006139] [ENSMUST00000040881] [ENSMUST00000115859] [ENSMUST00000115860] [ENSMUST00000123235] [ENSMUST00000124849] [ENSMUST00000139294] [ENSMUST00000143537] [ENSMUST00000145150] [ENSMUST00000150655] [ENSMUST00000176233] [ENSMUST00000177221] [ENSMUST00000177323] [ENSMUST00000186375]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006138
SMART Domains Protein: ENSMUSP00000006138
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000006139
AA Change: R63W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006139
Gene: ENSMUSG00000005983
AA Change: R63W

DomainStartEndE-ValueType
Pfam:DUF4644 16 139 7.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040881
SMART Domains Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232

DomainStartEndE-ValueType
Pfam:Cluap1 14 283 2.5e-121 PFAM
low complexity region 297 307 N/A INTRINSIC
low complexity region 310 330 N/A INTRINSIC
low complexity region 360 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115859
AA Change: R49W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111525
Gene: ENSMUSG00000005983
AA Change: R49W

DomainStartEndE-ValueType
Pfam:DUF4644 2 162 4.7e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115860
SMART Domains Protein: ENSMUSP00000111526
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123235
AA Change: R54W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135233
Gene: ENSMUSG00000005983
AA Change: R54W

DomainStartEndE-ValueType
Pfam:DUF4644 7 67 1.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124849
SMART Domains Protein: ENSMUSP00000119490
Gene: ENSMUSG00000014232

DomainStartEndE-ValueType
Pfam:Cluap1 3 206 8.7e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139294
Predicted Effect probably benign
Transcript: ENSMUST00000143537
SMART Domains Protein: ENSMUSP00000135188
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
SCOP:d1cjwa_ 10 113 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145150
SMART Domains Protein: ENSMUSP00000116855
Gene: ENSMUSG00000014232

DomainStartEndE-ValueType
Pfam:Cluap1 3 188 9.9e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150655
SMART Domains Protein: ENSMUSP00000135206
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176233
SMART Domains Protein: ENSMUSP00000135826
Gene: ENSMUSG00000093575

DomainStartEndE-ValueType
Pfam:Cluap1 119 282 2.8e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177221
AA Change: R60W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134800
Gene: ENSMUSG00000005983
AA Change: R60W

DomainStartEndE-ValueType
Pfam:DUF4644 13 144 7.2e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177323
AA Change: R53W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135766
Gene: ENSMUSG00000005983
AA Change: R53W

DomainStartEndE-ValueType
Pfam:DUF4644 6 166 1.5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186375
SMART Domains Protein: ENSMUSP00000140031
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,080,292 (GRCm39) S282P Het
Aqp4 A G 18: 15,531,222 (GRCm39) S180P probably benign Het
Armc2 T G 10: 41,839,747 (GRCm39) E406A probably benign Het
Atp13a3 A T 16: 30,168,598 (GRCm39) Y464N probably damaging Het
B3gnt3 C A 8: 72,146,122 (GRCm39) V136L probably benign Het
Cacna1s C T 1: 136,035,893 (GRCm39) H1378Y probably damaging Het
Ccnk A T 12: 108,159,933 (GRCm39) E138D probably benign Het
Cenpe A G 3: 134,957,375 (GRCm39) K1878E probably benign Het
Cep57l1 T A 10: 41,616,955 (GRCm39) I111L probably damaging Het
Cfap298 G T 16: 90,727,889 (GRCm39) N100K probably damaging Het
Copg2 T C 6: 30,790,665 (GRCm39) I509V probably benign Het
Cux2 T A 5: 122,012,217 (GRCm39) D406V probably benign Het
Cyp2a12 G T 7: 26,730,529 (GRCm39) A165S probably benign Het
Dnaaf5 T G 5: 139,167,250 (GRCm39) S719A probably benign Het
Dnah7c A G 1: 46,646,618 (GRCm39) I1220V possibly damaging Het
Dnai3 G T 3: 145,800,066 (GRCm39) P158H probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dusp10 T A 1: 183,769,749 (GRCm39) D238E possibly damaging Het
Dync1li1 C A 9: 114,538,253 (GRCm39) D203E probably benign Het
Ecpas A T 4: 58,872,587 (GRCm39) probably null Het
Eif5b T C 1: 38,075,283 (GRCm39) S587P probably damaging Het
Ephb2 G A 4: 136,386,256 (GRCm39) T832I probably damaging Het
Exoc1 T A 5: 76,707,674 (GRCm39) probably null Het
Fam193a T A 5: 34,597,917 (GRCm39) N571K probably damaging Het
Fem1a T A 17: 56,565,356 (GRCm39) I483N probably damaging Het
Fgf20 C A 8: 40,761,361 (GRCm39) probably benign Het
Fkbp1a C T 2: 151,399,356 (GRCm39) P98S Het
Gpsm3 A T 17: 34,809,451 (GRCm39) D19V probably benign Het
Ido2 C A 8: 25,023,696 (GRCm39) G381W probably damaging Het
Ifi204 T C 1: 173,579,226 (GRCm39) T540A possibly damaging Het
Isl1 A T 13: 116,441,954 (GRCm39) M93K probably benign Het
Map3k10 T A 7: 27,362,671 (GRCm39) S472C probably damaging Het
Mcrs1 A T 15: 99,141,206 (GRCm39) V432E probably damaging Het
Metap2 A G 10: 93,701,267 (GRCm39) probably null Het
Muc5b A G 7: 141,421,421 (GRCm39) S4304G probably benign Het
Myef2l G T 3: 10,153,914 (GRCm39) V228F probably damaging Het
Nell1 T C 7: 50,098,622 (GRCm39) V308A unknown Het
Or10g1b A G 14: 52,627,987 (GRCm39) V81A probably benign Het
Or4d5 A T 9: 40,012,767 (GRCm39) H6Q probably benign Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Pnpla6 T C 8: 3,592,382 (GRCm39) S1224P probably benign Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rnpep T C 1: 135,200,172 (GRCm39) E261G possibly damaging Het
Robo1 C A 16: 72,730,142 (GRCm39) S194R probably damaging Het
Rpusd1 C G 17: 25,947,611 (GRCm39) Y99* probably null Het
Scarf1 T C 11: 75,413,065 (GRCm39) M437T probably benign Het
Sh3tc2 G T 18: 62,106,429 (GRCm39) D153Y probably damaging Het
Siglec1 T C 2: 130,927,599 (GRCm39) Y69C probably damaging Het
Slc25a34 T C 4: 141,347,895 (GRCm39) Y262C probably damaging Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
St6galnac2 T C 11: 116,572,748 (GRCm39) Y236C probably damaging Het
Stac3 T A 10: 127,344,068 (GRCm39) I322N probably damaging Het
Tcaf1 T C 6: 42,652,190 (GRCm39) Q764R probably damaging Het
Tcf20 G A 15: 82,737,606 (GRCm39) R1282* probably null Het
Tlr2 T A 3: 83,743,821 (GRCm39) K754M probably damaging Het
Tlr2 T G 3: 83,743,822 (GRCm39) K754Q probably damaging Het
Tnn C T 1: 159,953,088 (GRCm39) V651M probably damaging Het
Ttn T C 2: 76,701,083 (GRCm39) H9622R unknown Het
Tubgcp6 C T 15: 89,004,843 (GRCm39) G259S probably damaging Het
Ubr5 C A 15: 38,006,751 (GRCm39) C1174F Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vit C T 17: 78,853,828 (GRCm39) H25Y probably benign Het
Vmn1r177 G A 7: 23,565,736 (GRCm39) Q47* probably null Het
Vmn2r104 A T 17: 20,250,465 (GRCm39) V602D possibly damaging Het
Vmn2r115 A G 17: 23,578,530 (GRCm39) T668A probably damaging Het
Vmn2r125 T G 4: 156,703,709 (GRCm39) C362W probably damaging Het
Vwa7 A G 17: 35,238,712 (GRCm39) T267A probably damaging Het
Xpa C A 4: 46,183,225 (GRCm39) R188L possibly damaging Het
Zfp143 C T 7: 109,676,364 (GRCm39) T249I probably damaging Het
Zfp607a A G 7: 27,578,868 (GRCm39) E646G possibly damaging Het
Zfp729a A T 13: 67,769,838 (GRCm39) S130R probably benign Het
Zswim3 C A 2: 164,662,128 (GRCm39) Q203K probably damaging Het
Other mutations in 1700037C18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02275:1700037C18Rik APN 16 3,724,146 (GRCm39) missense probably damaging 1.00
R0485:1700037C18Rik UTSW 16 3,725,511 (GRCm39) missense probably damaging 0.99
R1579:1700037C18Rik UTSW 16 3,724,039 (GRCm39) missense probably benign 0.39
R1643:1700037C18Rik UTSW 16 3,724,942 (GRCm39) nonsense probably null
R2181:1700037C18Rik UTSW 16 3,724,950 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CCTGCCTTAACAGAGCTTACC -3'
(R):5'- GAGTTGGTACTTGCATTTCCCC -3'

Sequencing Primer
(F):5'- AACAGAGCTTACCTGTATTTCCCAG -3'
(R):5'- AGATGCTGTTCCCACTGGC -3'
Posted On 2020-07-13