Incidental Mutation 'R9718:Sectm1a'
ID 730621
Institutional Source Beutler Lab
Gene Symbol Sectm1a
Ensembl Gene ENSMUSG00000025165
Gene Name secreted and transmembrane 1A
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R9718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 121067407-121081220 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121069664 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 108 (D108E)
Ref Sequence ENSEMBL: ENSMUSP00000026162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026162] [ENSMUST00000100126] [ENSMUST00000106119] [ENSMUST00000106120]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026162
AA Change: D108E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026162
Gene: ENSMUSG00000025165
AA Change: D108E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Blast:IG 39 133 2e-64 BLAST
SCOP:d1biha2 42 114 3e-3 SMART
transmembrane domain 165 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100126
SMART Domains Protein: ENSMUSP00000097702
Gene: ENSMUSG00000025165

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106119
SMART Domains Protein: ENSMUSP00000101725
Gene: ENSMUSG00000025165

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106120
AA Change: D108E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101726
Gene: ENSMUSG00000025165
AA Change: D108E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Blast:IG 39 133 2e-64 BLAST
SCOP:d1biha2 42 114 2e-3 SMART
transmembrane domain 147 169 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 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 transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A C 2: 32,575,235 probably benign Het
Acvr1c A T 2: 58,315,995 D34E probably benign Het
Arhgef19 T C 4: 141,249,292 V455A probably damaging Het
Cbfa2t3 T A 8: 122,638,197 D282V probably benign Het
Ccl9 T A 11: 83,575,412 N114I probably benign Het
Cdan1 G T 2: 120,724,169 A875E probably damaging Het
Celf2 A T 2: 6,721,538 F61L probably damaging Het
Chd9 T C 8: 90,986,173 Y875H unknown Het
Ckap5 A T 2: 91,548,832 K39M probably benign Het
Clcn3 T C 8: 60,937,400 H169R possibly damaging Het
Csmd3 C A 15: 47,696,687 V1416F Het
Cyp4v3 A T 8: 45,320,666 H155Q probably damaging Het
Dhx36 A G 3: 62,472,045 F874S possibly damaging Het
Dnah14 A T 1: 181,622,979 Q719L probably benign Het
Evi2 C T 11: 79,515,757 V331M probably damaging Het
Fcgrt T G 7: 45,095,429 E205A possibly damaging Het
Fkrp G T 7: 16,811,187 T250N probably benign Het
Galc G A 12: 98,259,314 P6S Het
Gm13420 A T 2: 29,747,536 L42Q probably damaging Het
Gm5134 A T 10: 75,992,497 M304L possibly damaging Het
Gm813 A G 16: 58,614,611 L117S probably benign Het
Haao T C 17: 83,834,786 E208G probably damaging Het
Hook1 T A 4: 96,016,441 H553Q probably benign Het
Igdcc3 A G 9: 65,182,998 probably null Het
Ighv10-3 C T 12: 114,523,634 V56I probably benign Het
Ighv1-62-1 G T 12: 115,387,085 A15E probably benign Het
Krtap24-1 T C 16: 88,611,490 *249W probably null Het
Ktn1 T G 14: 47,673,051 I318R probably damaging Het
L3mbtl2 A G 15: 81,687,922 T710A unknown Het
Ldha A T 7: 46,855,032 Q326L possibly damaging Het
Map4 G A 9: 110,072,706 probably null Het
Mdfic T A 6: 15,770,515 H173Q probably damaging Het
Noxred1 T A 12: 87,224,918 Q159L possibly damaging Het
Olfr114 C T 17: 37,590,023 G110D probably benign Het
Olfr584 T C 7: 103,085,989 V152A probably benign Het
Omd T C 13: 49,589,860 S129P probably damaging Het
Parp16 A G 9: 65,233,727 Y193C probably damaging Het
Pdzk1 A G 3: 96,855,858 T201A Het
Phldb2 T A 16: 45,781,393 H728L possibly damaging Het
Ptchd4 C T 17: 42,502,750 T514I probably damaging Het
Pusl1 T C 4: 155,891,637 D24G probably benign Het
Rai1 G A 11: 60,189,339 A1410T probably benign Het
Rint1 T A 5: 23,800,723 H134Q possibly damaging Het
Rnf170 A G 8: 26,129,215 S156G unknown Het
Rtf1 A G 2: 119,705,505 D180G possibly damaging Het
Senp7 T A 16: 56,123,914 D200E probably damaging Het
Sfswap A G 5: 129,539,784 S431G probably benign Het
Sh3bp4 T A 1: 89,145,750 D773E probably damaging Het
Shprh T C 10: 11,213,504 L1662P probably damaging Het
Slx4 G T 16: 3,986,464 P829T possibly damaging Het
Snapc4 A T 2: 26,378,521 S43T probably damaging Het
Ssh3 C T 19: 4,262,409 R636Q probably benign Het
Strn4 G A 7: 16,838,571 V679M probably damaging Het
Tas2r121 T G 6: 132,700,802 Y69S probably benign Het
Tcerg1 C T 18: 42,530,771 T341M unknown Het
Tjp2 A C 19: 24,100,843 S895R probably damaging Het
Tmem220 G T 11: 67,025,260 A28S probably damaging Het
Trdv1 G A 14: 53,882,206 C109Y probably damaging Het
Trpc6 A G 9: 8,634,189 Y423C probably damaging Het
Ttn T C 2: 76,794,683 M15184V possibly damaging Het
Ugt2b37 T A 5: 87,242,943 Y355F probably benign Het
Vnn3 C T 10: 23,869,556 R468* probably null Het
Washc5 T A 15: 59,345,343 T792S probably benign Het
Wdfy4 T C 14: 33,125,936 M820V Het
Zfp961 T A 8: 71,968,089 C149S possibly damaging Het
Zmat4 G A 8: 23,748,491 V30M probably damaging Het
Other mutations in Sectm1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01664:Sectm1a APN 11 121069044 missense possibly damaging 0.55
R0571:Sectm1a UTSW 11 121069102 intron probably benign
R1987:Sectm1a UTSW 11 121069680 missense probably damaging 1.00
R2023:Sectm1a UTSW 11 121069582 splice site probably benign
R3157:Sectm1a UTSW 11 121068777 missense probably benign 0.19
R3158:Sectm1a UTSW 11 121068777 missense probably benign 0.19
R4463:Sectm1a UTSW 11 121069651 missense probably benign
R4664:Sectm1a UTSW 11 121069726 missense possibly damaging 0.76
R7241:Sectm1a UTSW 11 121069882 missense possibly damaging 0.46
R7418:Sectm1a UTSW 11 121069293 splice site probably null
R7712:Sectm1a UTSW 11 121068805 missense probably damaging 0.99
R8990:Sectm1a UTSW 11 121069875 missense probably damaging 1.00
R9100:Sectm1a UTSW 11 121069743 missense possibly damaging 0.90
R9200:Sectm1a UTSW 11 121069647 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGACAGATTAAGTTCCTCTG -3'
(R):5'- GCAGTGATGACCTGTAACATCTC -3'

Sequencing Primer
(F):5'- GAAATATCAAAATCTTTGCCTTCCCC -3'
(R):5'- GTGATGACCTGTAACATCTCTAACAC -3'
Posted On 2022-10-06