Incidental Mutation 'R2135:Smim10l1'
ID 235714
Institutional Source Beutler Lab
Gene Symbol Smim10l1
Ensembl Gene ENSMUSG00000072704
Gene Name small integral membrane protein 10 like 1
Synonyms 2700089E24Rik
MMRRC Submission 040138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R2135 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 133082202-133087862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133082489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 12 (F12S)
Ref Sequence ENSEMBL: ENSMUSP00000139534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100864] [ENSMUST00000186945] [ENSMUST00000187237] [ENSMUST00000191462]
AlphaFold A0A087WNQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000100864
AA Change: F38S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098428
Gene: ENSMUSG00000072704
AA Change: F38S

DomainStartEndE-ValueType
Pfam:DUF4560 4 67 1.5e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186945
AA Change: F12S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000187237
AA Change: F38S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139832
Gene: ENSMUSG00000072704
AA Change: F38S

DomainStartEndE-ValueType
Pfam:DUF4560 4 68 1.9e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191462
AA Change: F38S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139452
Gene: ENSMUSG00000072704
AA Change: F38S

DomainStartEndE-ValueType
Pfam:DUF4560 4 66 4.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204588
Meta Mutation Damage Score 0.3591 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,509 (GRCm39) H116Q probably benign Het
Adamts16 C A 13: 70,949,126 (GRCm39) L178F probably damaging Het
Adgrv1 A G 13: 81,672,676 (GRCm39) probably null Het
Akap9 A G 5: 4,114,509 (GRCm39) T46A probably damaging Het
Ankrd2 T C 19: 42,032,498 (GRCm39) L253P probably damaging Het
Arap3 T C 18: 38,107,509 (GRCm39) D1336G probably damaging Het
Cacna2d2 C A 9: 107,403,712 (GRCm39) L992I possibly damaging Het
Cdhr2 T A 13: 54,868,760 (GRCm39) I574N probably damaging Het
Cecr2 C T 6: 120,697,923 (GRCm39) T74M probably damaging Het
Ces5a C A 8: 94,226,369 (GRCm39) E481D probably benign Het
Cfap74 C G 4: 155,514,397 (GRCm39) N544K probably damaging Het
Cfap74 T A 4: 155,514,408 (GRCm39) L548Q probably damaging Het
Cfb C T 17: 35,076,254 (GRCm39) V1145I possibly damaging Het
CK137956 A G 4: 127,845,433 (GRCm39) probably benign Het
Commd10 T A 18: 47,123,604 (GRCm39) L153Q possibly damaging Het
Cox6c T C 15: 35,937,429 (GRCm39) probably benign Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Ermp1 T C 19: 29,623,465 (GRCm39) D119G possibly damaging Het
Ext1 G T 15: 52,965,140 (GRCm39) Q409K possibly damaging Het
Fat4 A T 3: 39,034,882 (GRCm39) I2845F probably damaging Het
Frmd6 A G 12: 70,941,771 (GRCm39) N494S probably benign Het
Fscn3 A G 6: 28,431,583 (GRCm39) T305A probably benign Het
Gbx1 G T 5: 24,731,220 (GRCm39) R199S possibly damaging Het
Gm11437 T C 11: 84,044,638 (GRCm39) R192G probably damaging Het
Gucy2c T A 6: 136,700,726 (GRCm39) D572V probably damaging Het
Idh1 A C 1: 65,201,078 (GRCm39) M291R probably damaging Het
Kcnt2 A G 1: 140,356,551 (GRCm39) Y330C probably damaging Het
Kdm4a A G 4: 117,999,656 (GRCm39) L922P probably damaging Het
L3mbtl2 A G 15: 81,566,215 (GRCm39) D346G possibly damaging Het
Lsm14a A G 7: 34,070,609 (GRCm39) S96P probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Marchf6 A T 15: 31,509,910 (GRCm39) C26* probably null Het
Msra G A 14: 64,360,657 (GRCm39) P228L probably damaging Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Mycbp2 A T 14: 103,383,378 (GRCm39) D395E probably benign Het
Ncr1 C A 7: 4,343,756 (GRCm39) probably benign Het
Nkd1 T C 8: 89,318,278 (GRCm39) I201T probably benign Het
Nsrp1 A T 11: 76,945,834 (GRCm39) probably benign Het
Or2t48 A C 11: 58,420,611 (GRCm39) I67S probably damaging Het
Or7e177 T A 9: 20,211,593 (GRCm39) D32E probably benign Het
Pate5 A C 9: 35,750,479 (GRCm39) probably null Het
Pkdrej T C 15: 85,700,707 (GRCm39) Y1743C probably damaging Het
Plekha5 T A 6: 140,526,225 (GRCm39) H281Q possibly damaging Het
Ppp2r3d A C 9: 101,088,757 (GRCm39) M522R probably damaging Het
Prdm12 T C 2: 31,530,325 (GRCm39) F72S possibly damaging Het
Prima1 A T 12: 103,168,949 (GRCm39) F106L probably damaging Het
Ptchd4 A G 17: 42,627,965 (GRCm39) H142R probably benign Het
Rasgrf2 G A 13: 92,120,374 (GRCm39) A793V probably benign Het
Rbsn T A 6: 92,166,854 (GRCm39) M597L probably benign Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Rp9 T C 9: 22,379,425 (GRCm39) K25E possibly damaging Het
Sec31b T C 19: 44,523,135 (GRCm39) S211G probably damaging Het
Shank2 C T 7: 143,964,971 (GRCm39) P1070S probably damaging Het
Sla A G 15: 66,654,563 (GRCm39) V241A probably benign Het
Slc25a40 A G 5: 8,477,489 (GRCm39) T25A possibly damaging Het
Slc3a2 A G 19: 8,685,608 (GRCm39) S164P probably benign Het
Slc7a5 A T 8: 122,610,444 (GRCm39) W457R probably null Het
Slco6c1 A G 1: 97,032,542 (GRCm39) M303T probably benign Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Tecta A C 9: 42,251,581 (GRCm39) C1781G probably damaging Het
Timmdc1 A T 16: 38,319,313 (GRCm39) H280Q probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem30b A G 12: 73,592,107 (GRCm39) L336P probably damaging Het
Tmem94 A G 11: 115,685,575 (GRCm39) I943V probably benign Het
Tshb A G 3: 102,685,464 (GRCm39) probably null Het
Vcpip1 A G 1: 9,818,035 (GRCm39) V116A probably benign Het
Vmn2r76 A G 7: 85,880,219 (GRCm39) Y156H probably benign Het
Zcrb1 T C 15: 93,295,067 (GRCm39) N23S probably damaging Het
Zfyve26 T C 12: 79,292,826 (GRCm39) R2108G possibly damaging Het
Other mutations in Smim10l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Smim10l1 APN 6 133,082,471 (GRCm39) missense probably damaging 0.99
BB002:Smim10l1 UTSW 6 133,082,545 (GRCm39) missense probably damaging 1.00
BB012:Smim10l1 UTSW 6 133,082,545 (GRCm39) missense probably damaging 1.00
R5696:Smim10l1 UTSW 6 133,082,489 (GRCm39) missense probably damaging 1.00
R6661:Smim10l1 UTSW 6 133,082,513 (GRCm39) missense possibly damaging 0.57
R7219:Smim10l1 UTSW 6 133,084,895 (GRCm39) missense unknown
R7925:Smim10l1 UTSW 6 133,082,545 (GRCm39) missense probably damaging 1.00
R8790:Smim10l1 UTSW 6 133,084,848 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCCTGTCCCTAGCAGTTACATAAC -3'
(R):5'- GATTGCACGTTCTTCTCGCG -3'

Sequencing Primer
(F):5'- TTCCTCGGGAAGCTGACAG -3'
(R):5'- CTCGCGCTTCTTGAAGGTGC -3'
Posted On 2014-10-01