Incidental Mutation 'R9465:Scrn1'
ID 715120
Institutional Source Beutler Lab
Gene Symbol Scrn1
Ensembl Gene ENSMUSG00000019124
Gene Name secernin 1
Synonyms 2810019K23Rik, SES1, 6330535A03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R9465 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 54478158-54543474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54502649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 130 (I130N)
Ref Sequence ENSEMBL: ENSMUSP00000019268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019268]
AlphaFold Q9CZC8
Predicted Effect probably damaging
Transcript: ENSMUST00000019268
AA Change: I130N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019268
Gene: ENSMUSG00000019124
AA Change: I130N

DomainStartEndE-ValueType
Pfam:Peptidase_C69 45 236 3.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203800
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A C 4: 123,754,317 (GRCm39) H77P possibly damaging Het
Adcy7 G T 8: 89,046,778 (GRCm39) R587L probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg4a-ps C T 3: 103,553,101 (GRCm39) R80H probably damaging Het
Btd G A 14: 31,389,643 (GRCm39) D455N probably benign Het
Cadps A G 14: 12,489,002 (GRCm38) S852P possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Cyp2j5 T C 4: 96,522,551 (GRCm39) D341G probably damaging Het
Dennd5b A G 6: 148,908,260 (GRCm39) V1011A probably damaging Het
Dlgap2 G A 8: 14,828,226 (GRCm39) E545K probably damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Gigyf2 A G 1: 87,334,775 (GRCm39) D262G unknown Het
Gstm3 T C 3: 107,873,431 (GRCm39) N180S possibly damaging Het
Helz2 G T 2: 180,874,710 (GRCm39) T1928K probably benign Het
Hipk4 T A 7: 27,229,160 (GRCm39) S537T probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Il24 T C 1: 130,813,462 (GRCm39) Q45R probably benign Het
Kcnh1 G A 1: 191,924,233 (GRCm39) G149E probably damaging Het
Krtap4-2 A G 11: 99,525,391 (GRCm39) S154P unknown Het
Marveld3 T A 8: 110,688,525 (GRCm39) H72L possibly damaging Het
Med1 T C 11: 98,049,144 (GRCm39) T551A probably benign Het
Mtor T A 4: 148,624,839 (GRCm39) I2150N possibly damaging Het
Ninl A G 2: 150,782,726 (GRCm39) S170P possibly damaging Het
Or1j14 T C 2: 36,417,898 (GRCm39) V158A probably benign Het
Or6aa1 T C 7: 86,043,864 (GRCm39) I281V probably benign Het
Otog T C 7: 45,955,299 (GRCm39) V563A possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Phkb G A 8: 86,623,059 (GRCm39) V128I probably damaging Het
Ppp2r3d A G 9: 124,442,222 (GRCm38) L50P Het
Prl2c5 C T 13: 13,360,531 (GRCm39) S66L probably benign Het
Ptbp1 T C 10: 79,695,615 (GRCm39) S239P possibly damaging Het
Repin1 A G 6: 48,571,877 (GRCm39) K41E probably benign Het
Spata31 T A 13: 65,068,527 (GRCm39) L225Q probably damaging Het
Spred1 G A 2: 116,983,648 (GRCm39) probably null Het
Taar7e A G 10: 23,914,310 (GRCm39) R267G possibly damaging Het
Tgm5 T A 2: 120,905,633 (GRCm39) Y174F probably damaging Het
Tmprss11f T C 5: 86,685,876 (GRCm39) I164V probably damaging Het
Tomm22 T C 15: 79,555,468 (GRCm39) L71P probably damaging Het
Ttn C A 2: 76,577,531 (GRCm39) G24454V probably damaging Het
Wdr64 A G 1: 175,618,823 (GRCm39) S739G possibly damaging Het
Zswim2 C T 2: 83,746,275 (GRCm39) V388I probably benign Het
Other mutations in Scrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Scrn1 APN 6 54,497,694 (GRCm39) missense possibly damaging 0.92
IGL00937:Scrn1 APN 6 54,497,718 (GRCm39) missense probably benign 0.02
IGL01568:Scrn1 APN 6 54,499,739 (GRCm39) unclassified probably benign
IGL02572:Scrn1 APN 6 54,489,186 (GRCm39) missense probably benign 0.01
IGL03251:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
IGL03279:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
IGL03301:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
IGL03307:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
R1583:Scrn1 UTSW 6 54,497,754 (GRCm39) missense probably damaging 1.00
R1658:Scrn1 UTSW 6 54,497,791 (GRCm39) missense probably benign
R1843:Scrn1 UTSW 6 54,499,826 (GRCm39) missense possibly damaging 0.81
R2314:Scrn1 UTSW 6 54,502,631 (GRCm39) missense probably benign 0.43
R4795:Scrn1 UTSW 6 54,497,754 (GRCm39) missense possibly damaging 0.71
R4960:Scrn1 UTSW 6 54,511,407 (GRCm39) missense probably damaging 1.00
R5420:Scrn1 UTSW 6 54,489,048 (GRCm39) missense probably benign 0.15
R8057:Scrn1 UTSW 6 54,497,758 (GRCm39) missense probably benign
R8340:Scrn1 UTSW 6 54,511,518 (GRCm39) missense possibly damaging 0.81
R8544:Scrn1 UTSW 6 54,499,841 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGGGTGTCCTATCATCAAAAG -3'
(R):5'- GAGAGGCATTTGAGTTCAAGTTC -3'

Sequencing Primer
(F):5'- ATCAAAAGTCTTTATCCTGTACCCC -3'
(R):5'- TGAGTTCAAGTTCTATTAAGCAGTTC -3'
Posted On 2022-06-15