Incidental Mutation 'R6769:Scfd2'
ID 532081
Institutional Source Beutler Lab
Gene Symbol Scfd2
Ensembl Gene ENSMUSG00000062110
Gene Name Sec1 family domain containing 2
Synonyms E430013M20Rik, STXBP1L1
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6769 (G1)
Quality Score 155.008
Status Validated
Chromosome 5
Chromosomal Location 74365477-74692420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74692117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 55 (H55R)
Ref Sequence ENSEMBL: ENSMUSP00000121098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072857] [ENSMUST00000075848] [ENSMUST00000080164] [ENSMUST00000113534] [ENSMUST00000113535] [ENSMUST00000113536] [ENSMUST00000113542] [ENSMUST00000120618] [ENSMUST00000151474]
AlphaFold Q8BTY8
Predicted Effect probably benign
Transcript: ENSMUST00000072857
AA Change: H55R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: H55R

DomainStartEndE-ValueType
Pfam:Sec1 25 668 1.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075848
AA Change: H55R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: H55R

DomainStartEndE-ValueType
low complexity region 458 471 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080164
SMART Domains Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227

DomainStartEndE-ValueType
low complexity region 44 53 N/A INTRINSIC
low complexity region 78 94 N/A INTRINSIC
Pfam:Fip1 152 196 1.2e-28 PFAM
low complexity region 296 357 N/A INTRINSIC
low complexity region 405 441 N/A INTRINSIC
low complexity region 453 507 N/A INTRINSIC
low complexity region 510 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113534
SMART Domains Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227

DomainStartEndE-ValueType
low complexity region 44 53 N/A INTRINSIC
low complexity region 78 94 N/A INTRINSIC
Pfam:Fip1 152 196 1.1e-28 PFAM
low complexity region 270 290 N/A INTRINSIC
low complexity region 355 405 N/A INTRINSIC
low complexity region 455 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113535
SMART Domains Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227

DomainStartEndE-ValueType
low complexity region 44 53 N/A INTRINSIC
low complexity region 78 94 N/A INTRINSIC
Pfam:Fip1 152 196 6.4e-29 PFAM
low complexity region 296 346 N/A INTRINSIC
low complexity region 396 432 N/A INTRINSIC
low complexity region 444 498 N/A INTRINSIC
low complexity region 501 514 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113536
SMART Domains Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227

DomainStartEndE-ValueType
low complexity region 44 53 N/A INTRINSIC
low complexity region 78 94 N/A INTRINSIC
Pfam:Fip1 152 196 1.3e-28 PFAM
low complexity region 247 267 N/A INTRINSIC
low complexity region 332 393 N/A INTRINSIC
low complexity region 441 477 N/A INTRINSIC
low complexity region 489 543 N/A INTRINSIC
low complexity region 546 559 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113542
AA Change: H55R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: H55R

DomainStartEndE-ValueType
low complexity region 471 479 N/A INTRINSIC
low complexity region 506 516 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120618
SMART Domains Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
Pfam:Fip1 137 181 2e-29 PFAM
low complexity region 255 275 N/A INTRINSIC
low complexity region 340 401 N/A INTRINSIC
low complexity region 449 485 N/A INTRINSIC
low complexity region 497 551 N/A INTRINSIC
low complexity region 554 567 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151474
AA Change: H55R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: H55R

DomainStartEndE-ValueType
low complexity region 458 471 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Mnat1 A G 12: 73,319,196 (GRCm39) N273S probably benign Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T probably damaging Het
Other mutations in Scfd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Scfd2 APN 5 74,691,595 (GRCm39) missense possibly damaging 0.67
IGL01094:Scfd2 APN 5 74,691,707 (GRCm39) missense possibly damaging 0.69
IGL02928:Scfd2 APN 5 74,691,832 (GRCm39) missense probably damaging 1.00
IGL03365:Scfd2 APN 5 74,691,596 (GRCm39) missense possibly damaging 0.67
BB009:Scfd2 UTSW 5 74,692,211 (GRCm39) missense probably benign 0.33
BB019:Scfd2 UTSW 5 74,692,211 (GRCm39) missense probably benign 0.33
P0035:Scfd2 UTSW 5 74,385,980 (GRCm39) missense possibly damaging 0.89
R1696:Scfd2 UTSW 5 74,691,539 (GRCm39) missense probably benign
R1857:Scfd2 UTSW 5 74,372,962 (GRCm39) nonsense probably null
R2136:Scfd2 UTSW 5 74,367,028 (GRCm39) missense probably benign 0.01
R2205:Scfd2 UTSW 5 74,386,028 (GRCm39) missense possibly damaging 0.93
R2504:Scfd2 UTSW 5 74,691,838 (GRCm39) missense probably damaging 1.00
R3864:Scfd2 UTSW 5 74,558,381 (GRCm39) missense possibly damaging 0.49
R4439:Scfd2 UTSW 5 74,558,368 (GRCm39) missense possibly damaging 0.69
R4590:Scfd2 UTSW 5 74,372,917 (GRCm39) missense probably benign 0.01
R4703:Scfd2 UTSW 5 74,680,256 (GRCm39) missense probably benign 0.00
R4901:Scfd2 UTSW 5 74,680,226 (GRCm39) missense probably damaging 1.00
R4916:Scfd2 UTSW 5 74,623,319 (GRCm39) missense probably damaging 1.00
R4970:Scfd2 UTSW 5 74,366,982 (GRCm39) missense probably benign 0.15
R5112:Scfd2 UTSW 5 74,366,982 (GRCm39) missense probably benign 0.15
R5474:Scfd2 UTSW 5 74,692,025 (GRCm39) missense probably benign 0.24
R5706:Scfd2 UTSW 5 74,367,059 (GRCm39) splice site probably null
R5766:Scfd2 UTSW 5 74,623,312 (GRCm39) missense probably damaging 1.00
R6771:Scfd2 UTSW 5 74,692,117 (GRCm39) missense probably benign 0.01
R6961:Scfd2 UTSW 5 74,680,202 (GRCm39) missense possibly damaging 0.86
R6963:Scfd2 UTSW 5 74,642,870 (GRCm39) missense probably damaging 1.00
R7151:Scfd2 UTSW 5 74,558,326 (GRCm39) missense possibly damaging 0.56
R7159:Scfd2 UTSW 5 74,692,004 (GRCm39) missense probably benign 0.01
R7510:Scfd2 UTSW 5 74,372,988 (GRCm39) missense probably damaging 1.00
R7602:Scfd2 UTSW 5 74,623,271 (GRCm39) missense probably benign 0.32
R7678:Scfd2 UTSW 5 74,619,297 (GRCm39) missense probably benign
R7932:Scfd2 UTSW 5 74,692,211 (GRCm39) missense probably benign 0.33
R8074:Scfd2 UTSW 5 74,680,257 (GRCm39) missense probably benign 0.00
R8088:Scfd2 UTSW 5 74,692,024 (GRCm39) missense probably benign 0.12
R8511:Scfd2 UTSW 5 74,372,949 (GRCm39) missense possibly damaging 0.84
R8725:Scfd2 UTSW 5 74,642,900 (GRCm39) missense probably benign 0.01
R8837:Scfd2 UTSW 5 74,691,656 (GRCm39) missense probably benign 0.19
R9015:Scfd2 UTSW 5 74,691,625 (GRCm39) missense probably damaging 1.00
R9055:Scfd2 UTSW 5 74,691,931 (GRCm39) missense possibly damaging 0.50
R9336:Scfd2 UTSW 5 74,692,006 (GRCm39) missense probably damaging 1.00
R9489:Scfd2 UTSW 5 74,680,235 (GRCm39) missense probably damaging 1.00
R9691:Scfd2 UTSW 5 74,691,611 (GRCm39) missense possibly damaging 0.82
R9719:Scfd2 UTSW 5 74,386,004 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCCGTATAGTTCTCGTTG -3'
(R):5'- TGGCGATACGGGATCATGAG -3'

Sequencing Primer
(F):5'- TCCAGCTGTTCGAACACCG -3'
(R):5'- ATACGGGATCATGAGCGCCG -3'
Posted On 2018-08-29