Incidental Mutation 'R4248:Gucd1'
ID 320502
Institutional Source Beutler Lab
Gene Symbol Gucd1
Ensembl Gene ENSMUSG00000033416
Gene Name guanylyl cyclase domain containing 1
Synonyms 1110038D17Rik
MMRRC Submission 041064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4248 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75342648-75353806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75345662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 131 (V131E)
Ref Sequence ENSEMBL: ENSMUSP00000123254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039796] [ENSMUST00000118936] [ENSMUST00000123505] [ENSMUST00000136763] [ENSMUST00000138122] [ENSMUST00000145890] [ENSMUST00000147269] [ENSMUST00000219774]
AlphaFold Q8BZI6
Predicted Effect probably damaging
Transcript: ENSMUST00000039796
AA Change: V131E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043000
Gene: ENSMUSG00000033416
AA Change: V131E

DomainStartEndE-ValueType
Pfam:Peptidase_C39_2 20 206 8.2e-14 PFAM
Pfam:Guanylate_cyc_2 22 235 2.3e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118936
AA Change: V92E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113976
Gene: ENSMUSG00000033416
AA Change: V92E

DomainStartEndE-ValueType
Pfam:Peptidase_C39_2 1 167 1.1e-8 PFAM
Pfam:Guanylate_cyc_2 1 197 7.8e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123505
AA Change: V57E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117292
Gene: ENSMUSG00000033416
AA Change: V57E

DomainStartEndE-ValueType
Pfam:Guanylate_cyc_2 1 93 9.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128419
SMART Domains Protein: ENSMUSP00000121405
Gene: ENSMUSG00000033416

DomainStartEndE-ValueType
Pfam:Peptidase_C39_2 12 155 2.6e-9 PFAM
Pfam:Guanylate_cyc_2 14 125 5.4e-49 PFAM
Pfam:Guanylate_cyc_2 120 160 9.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129307
Predicted Effect probably benign
Transcript: ENSMUST00000136763
Predicted Effect probably benign
Transcript: ENSMUST00000138122
Predicted Effect probably damaging
Transcript: ENSMUST00000145890
AA Change: V131E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123254
Gene: ENSMUSG00000033416
AA Change: V131E

DomainStartEndE-ValueType
Pfam:Peptidase_C39_2 20 206 2.6e-10 PFAM
Pfam:Guanylate_cyc_2 22 210 4e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147269
AA Change: V92E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118894
Gene: ENSMUSG00000033416
AA Change: V92E

DomainStartEndE-ValueType
Pfam:Guanylate_cyc_2 1 135 7.3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219774
Predicted Effect probably benign
Transcript: ENSMUST00000153125
SMART Domains Protein: ENSMUSP00000117061
Gene: ENSMUSG00000033416

DomainStartEndE-ValueType
Pfam:Guanylate_cyc_2 2 91 2.3e-35 PFAM
Meta Mutation Damage Score 0.9233 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Alox12b G A 11: 69,054,431 (GRCm39) V250I probably benign Het
Armt1 T C 10: 4,389,687 (GRCm39) F115L probably benign Het
Cdh9 T C 15: 16,850,474 (GRCm39) F536L probably benign Het
Fbxo25 T C 8: 13,989,617 (GRCm39) S355P probably damaging Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gapt C A 13: 110,490,289 (GRCm39) V125F probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hivep2 A G 10: 14,007,299 (GRCm39) E1299G probably damaging Het
Hnf4g A G 3: 3,717,909 (GRCm39) D342G possibly damaging Het
Kmt2b C T 7: 30,273,489 (GRCm39) R2349H probably benign Het
Lama5 C T 2: 179,822,220 (GRCm39) R2896Q possibly damaging Het
Moxd2 A C 6: 40,855,933 (GRCm39) I552S probably damaging Het
Nkx1-2 TGGTGAGAGGGGGCCGCCTTGGCCCCG TG 7: 132,201,209 (GRCm39) probably null Het
Onecut3 A G 10: 80,349,963 (GRCm39) T486A possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pirb A G 7: 3,722,297 (GRCm39) F182S probably damaging Het
Rev1 C T 1: 38,146,729 (GRCm39) R34H possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Tep1 T C 14: 51,100,351 (GRCm39) H389R possibly damaging Het
Tnfrsf1b G A 4: 144,942,535 (GRCm39) A416V probably benign Het
Ust A T 10: 8,393,982 (GRCm39) L61Q possibly damaging Het
Vmn2r101 A T 17: 19,809,376 (GRCm39) K168N probably damaging Het
Other mutations in Gucd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0496:Gucd1 UTSW 10 75,347,100 (GRCm39) missense possibly damaging 0.88
R2126:Gucd1 UTSW 10 75,347,922 (GRCm39) missense probably damaging 1.00
R4657:Gucd1 UTSW 10 75,346,959 (GRCm39) missense probably benign 0.40
R4720:Gucd1 UTSW 10 75,345,494 (GRCm39) missense probably damaging 1.00
R5001:Gucd1 UTSW 10 75,353,036 (GRCm39) splice site probably null
R5580:Gucd1 UTSW 10 75,346,968 (GRCm39) missense possibly damaging 0.93
R6010:Gucd1 UTSW 10 75,256,600 (GRCm39) intron probably benign
R7130:Gucd1 UTSW 10 75,347,951 (GRCm39) missense possibly damaging 0.80
R7506:Gucd1 UTSW 10 75,347,019 (GRCm39) missense probably benign 0.00
R7707:Gucd1 UTSW 10 75,347,120 (GRCm39) unclassified probably benign
R9782:Gucd1 UTSW 10 75,345,650 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGTTATAGCCACGCAGGAC -3'
(R):5'- AGAAATGGTGAGCCTTCCCAC -3'

Sequencing Primer
(F):5'- ACGATGAAGTGGCCTTGGTAGTC -3'
(R):5'- CACTCTCCTGGTCATAGTGAC -3'
Posted On 2015-06-12