Incidental Mutation 'R8431:Tmprss4'
ID 653755
Institutional Source Beutler Lab
Gene Symbol Tmprss4
Ensembl Gene ENSMUSG00000032091
Gene Name transmembrane protease, serine 4
Synonyms
MMRRC Submission 067776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8431 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 45084024-45115390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45095661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 61 (I61N)
Ref Sequence ENSEMBL: ENSMUSP00000034599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034599] [ENSMUST00000165263] [ENSMUST00000170069]
AlphaFold Q8VCA5
Predicted Effect probably benign
Transcript: ENSMUST00000034599
AA Change: I61N

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034599
Gene: ENSMUSG00000032091
AA Change: I61N

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
LDLa 52 92 1.55e-2 SMART
SR 102 192 2.51e-7 SMART
Tryp_SPc 202 427 9.03e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165263
AA Change: I61N

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131890
Gene: ENSMUSG00000032091
AA Change: I61N

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
LDLa 52 92 1.55e-2 SMART
SR 102 192 2.51e-7 SMART
Tryp_SPc 202 335 2.26e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170069
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele appear healthy and response normally to a sodium-deficient diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,694,873 (GRCm39) F273S Het
Abhd14b G T 9: 106,328,612 (GRCm39) A78S probably benign Het
Adamtsl5 G A 10: 80,181,228 (GRCm39) P51L probably benign Het
Adap1 A C 5: 139,259,180 (GRCm39) F336V probably benign Het
Ankrd33b T C 15: 31,305,248 (GRCm39) N172S probably damaging Het
Arhgap24 A G 5: 103,040,464 (GRCm39) E560G possibly damaging Het
Ascc2 A T 11: 4,614,227 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Card6 A T 15: 5,129,758 (GRCm39) F546Y probably damaging Het
Cby3 T G 11: 50,250,084 (GRCm39) S2A probably damaging Het
Cct3 T C 3: 88,225,831 (GRCm39) S385P possibly damaging Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Cpne3 C A 4: 19,526,316 (GRCm39) A408S probably damaging Het
Ctsr A C 13: 61,308,304 (GRCm39) L280R probably damaging Het
D930048N14Rik GGG GGGG 11: 51,541,946 (GRCm39) probably null Het
Dlg4 A G 11: 69,930,388 (GRCm39) I388V probably benign Het
Ednrb T A 14: 104,080,633 (GRCm39) I94F probably benign Het
Eftud2 C A 11: 102,737,062 (GRCm39) A573S probably benign Het
Fsip2 C A 2: 82,811,910 (GRCm39) P2743Q probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Ier5 C A 1: 154,974,306 (GRCm39) D291Y probably benign Het
Ifi207 T C 1: 173,558,070 (GRCm39) I223V unknown Het
Ifi208 T C 1: 173,510,844 (GRCm39) V333A possibly damaging Het
Kank4 T C 4: 98,667,509 (GRCm39) I313V probably benign Het
Klhl7 T C 5: 24,343,473 (GRCm39) V263A possibly damaging Het
Klrg2 T C 6: 38,605,122 (GRCm39) D314G probably benign Het
Lrr1 T C 12: 69,225,470 (GRCm39) M382T possibly damaging Het
Ly6e A T 15: 74,830,190 (GRCm39) Q48L probably benign Het
Marchf6 C T 15: 31,505,892 (GRCm39) W43* probably null Het
Mepe A G 5: 104,486,047 (GRCm39) T396A possibly damaging Het
Myh8 T G 11: 67,174,440 (GRCm39) L229R possibly damaging Het
Ndufa10 C G 1: 92,379,732 (GRCm39) probably null Het
Nek1 C A 8: 61,487,066 (GRCm39) A272E possibly damaging Het
Nr1h2 T C 7: 44,199,767 (GRCm39) Y384C probably damaging Het
Or4c118 C A 2: 88,974,723 (GRCm39) V215F probably benign Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Phf2 A G 13: 48,975,078 (GRCm39) F294S unknown Het
Polr3e A T 7: 120,530,528 (GRCm39) I173F probably damaging Het
Ppfia2 A T 10: 106,671,952 (GRCm39) R464* probably null Het
Ppp1r9a T A 6: 5,115,456 (GRCm39) S860T probably benign Het
Rnf144a T C 12: 26,377,300 (GRCm39) Y93C probably damaging Het
Ryr2 T C 13: 11,673,894 (GRCm39) E3390G probably benign Het
Scn7a T C 2: 66,534,164 (GRCm39) T504A possibly damaging Het
Slc26a5 T G 5: 22,018,904 (GRCm39) D645A probably damaging Het
Sp140l2 G A 1: 85,235,170 (GRCm39) H130Y probably benign Het
Ston2 T A 12: 91,615,071 (GRCm39) I446F probably damaging Het
Tcp11l1 G A 2: 104,530,314 (GRCm39) P57S probably damaging Het
Th G T 7: 142,446,801 (GRCm39) H488Q probably benign Het
Wdtc1 A G 4: 133,049,481 (GRCm39) probably null Het
Xpnpep1 T C 19: 52,983,937 (GRCm39) N596S probably benign Het
Other mutations in Tmprss4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Tmprss4 APN 9 45,090,718 (GRCm39) missense probably damaging 1.00
R0153:Tmprss4 UTSW 9 45,095,634 (GRCm39) missense probably benign 0.01
R1445:Tmprss4 UTSW 9 45,095,683 (GRCm39) missense possibly damaging 0.59
R2359:Tmprss4 UTSW 9 45,097,130 (GRCm39) missense probably benign
R3918:Tmprss4 UTSW 9 45,091,964 (GRCm39) missense probably benign 0.13
R3919:Tmprss4 UTSW 9 45,091,964 (GRCm39) missense probably benign 0.13
R4655:Tmprss4 UTSW 9 45,087,702 (GRCm39) missense probably benign
R4949:Tmprss4 UTSW 9 45,086,841 (GRCm39) missense possibly damaging 0.92
R4976:Tmprss4 UTSW 9 45,084,706 (GRCm39) missense possibly damaging 0.86
R5177:Tmprss4 UTSW 9 45,085,260 (GRCm39) missense probably benign 0.09
R5918:Tmprss4 UTSW 9 45,086,414 (GRCm39) nonsense probably null
R6922:Tmprss4 UTSW 9 45,097,220 (GRCm39) missense probably benign
R7091:Tmprss4 UTSW 9 45,095,571 (GRCm39) missense probably damaging 0.97
R7488:Tmprss4 UTSW 9 45,086,853 (GRCm39) missense probably benign 0.03
R8781:Tmprss4 UTSW 9 45,087,740 (GRCm39) missense possibly damaging 0.96
R9654:Tmprss4 UTSW 9 45,090,700 (GRCm39) critical splice donor site probably null
X0058:Tmprss4 UTSW 9 45,089,131 (GRCm39) missense probably damaging 1.00
Z1088:Tmprss4 UTSW 9 45,086,763 (GRCm39) missense probably damaging 0.98
Z1177:Tmprss4 UTSW 9 45,095,539 (GRCm39) missense possibly damaging 0.47
Z1177:Tmprss4 UTSW 9 45,087,817 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GAGACCACATCTGAGCAGAC -3'
(R):5'- AAAAGTTGTCCTCTGACCTCCAG -3'

Sequencing Primer
(F):5'- TGAGCAGACATCCCCCACTG -3'
(R):5'- GTCAGGGACACACATGCTC -3'
Posted On 2020-10-20