Incidental Mutation 'R7026:Slc7a10'
ID 545956
Institutional Source Beutler Lab
Gene Symbol Slc7a10
Ensembl Gene ENSMUSG00000030495
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 10
Synonyms Asc-1, D7Bwg0847e
MMRRC Submission 045127-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 34885810-34900539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34898139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 297 (M297T)
Ref Sequence ENSEMBL: ENSMUSP00000001854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409] [ENSMUST00000131048] [ENSMUST00000135452] [ENSMUST00000167441]
AlphaFold P63115
Predicted Effect probably damaging
Transcript: ENSMUST00000001854
AA Change: M297T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: M297T

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
Pfam:AA_permease_2 46 474 4.8e-65 PFAM
Pfam:AA_permease 51 467 9.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118444
SMART Domains Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
CUB 43 159 9.97e-20 SMART
LDLa 165 202 7.21e-11 SMART
LDLa 211 251 1.37e-11 SMART
CUB 254 365 1.98e-3 SMART
LDLa 367 414 1.85e-1 SMART
LDLa 415 453 4.44e-3 SMART
LDLa 454 490 8.74e-10 SMART
transmembrane domain 497 519 N/A INTRINSIC
low complexity region 584 606 N/A INTRINSIC
low complexity region 641 652 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122409
SMART Domains Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
CUB 64 180 9.97e-20 SMART
LDLa 186 223 7.21e-11 SMART
LDLa 232 272 1.37e-11 SMART
CUB 275 386 1.98e-3 SMART
LDLa 388 435 1.85e-1 SMART
LDLa 436 474 4.44e-3 SMART
LDLa 475 511 8.74e-10 SMART
transmembrane domain 518 540 N/A INTRINSIC
low complexity region 605 627 N/A INTRINSIC
low complexity region 662 673 N/A INTRINSIC
low complexity region 695 705 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131048
AA Change: M297T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: M297T

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
Pfam:AA_permease_2 46 346 8.6e-48 PFAM
Pfam:AA_permease 51 346 1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135452
SMART Domains Protein: ENSMUSP00000127577
Gene: ENSMUSG00000030495

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
Pfam:AA_permease_2 46 125 1.5e-15 PFAM
Pfam:AA_permease 51 125 3.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146959
Predicted Effect probably benign
Transcript: ENSMUST00000167441
SMART Domains Protein: ENSMUSP00000129954
Gene: ENSMUSG00000030495

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
Meta Mutation Damage Score 0.9568 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
PHENOTYPE: A targeted mutation of this gene results in mice that develop tremors, ataxia and seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hhatl T C 9: 121,617,339 (GRCm39) D298G probably benign Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp12 T C 15: 39,743,566 (GRCm39) H123R probably damaging Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mboat2 T C 12: 24,998,381 (GRCm39) probably null Het
Mctp1 A G 13: 76,954,378 (GRCm39) T596A probably benign Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or11h4b A G 14: 50,918,716 (GRCm39) I125T probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Trp53bp2 T C 1: 182,270,300 (GRCm39) S367P probably benign Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F probably benign Het
Other mutations in Slc7a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Slc7a10 APN 7 34,885,917 (GRCm39) missense possibly damaging 0.90
IGL02728:Slc7a10 APN 7 34,897,123 (GRCm39) missense probably damaging 1.00
IGL02892:Slc7a10 APN 7 34,894,593 (GRCm39) missense possibly damaging 0.67
R0671:Slc7a10 UTSW 7 34,896,758 (GRCm39) missense probably benign 0.00
R1943:Slc7a10 UTSW 7 34,899,723 (GRCm39) missense probably benign 0.07
R3743:Slc7a10 UTSW 7 34,898,325 (GRCm39) missense probably damaging 0.99
R4256:Slc7a10 UTSW 7 34,898,140 (GRCm39) missense probably damaging 0.96
R4583:Slc7a10 UTSW 7 34,897,377 (GRCm39) critical splice donor site probably null
R4638:Slc7a10 UTSW 7 34,897,355 (GRCm39) missense probably damaging 1.00
R4749:Slc7a10 UTSW 7 34,900,187 (GRCm39) missense probably damaging 1.00
R5023:Slc7a10 UTSW 7 34,896,780 (GRCm39) missense possibly damaging 0.48
R5755:Slc7a10 UTSW 7 34,898,336 (GRCm39) missense probably damaging 0.99
R6247:Slc7a10 UTSW 7 34,886,012 (GRCm39) missense possibly damaging 0.57
R6430:Slc7a10 UTSW 7 34,897,083 (GRCm39) missense probably benign
R6450:Slc7a10 UTSW 7 34,886,015 (GRCm39) missense possibly damaging 0.83
R6814:Slc7a10 UTSW 7 34,894,689 (GRCm39) missense probably damaging 0.98
R7110:Slc7a10 UTSW 7 34,899,009 (GRCm39) missense probably benign
R7923:Slc7a10 UTSW 7 34,894,554 (GRCm39) missense probably damaging 0.98
R8000:Slc7a10 UTSW 7 34,899,865 (GRCm39) missense
R8680:Slc7a10 UTSW 7 34,885,997 (GRCm39) missense probably benign 0.34
R8827:Slc7a10 UTSW 7 34,897,313 (GRCm39) missense probably damaging 1.00
R8940:Slc7a10 UTSW 7 34,899,875 (GRCm39) missense probably benign 0.03
R9224:Slc7a10 UTSW 7 34,894,639 (GRCm39) nonsense probably null
Z1176:Slc7a10 UTSW 7 34,899,755 (GRCm39) missense probably damaging 1.00
Z1186:Slc7a10 UTSW 7 34,885,956 (GRCm39) missense probably benign
Z1191:Slc7a10 UTSW 7 34,885,956 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGTGCTCAGACAGAGGTTTG -3'
(R):5'- CTCCAAAAGTAGAGAGGGCCAC -3'

Sequencing Primer
(F):5'- AGACGGCAGTATGTCCCTG -3'
(R):5'- CCACAGAGACGGGCATGAC -3'
Posted On 2019-05-13