Incidental Mutation 'R8940:Slc7a10'
ID 680913
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 068780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R8940 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 34885810-34900539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34899875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 486 (T486A)
Ref Sequence ENSEMBL: ENSMUSP00000001854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409] [ENSMUST00000131048] [ENSMUST00000167441]
AlphaFold P63115
Predicted Effect probably benign
Transcript: ENSMUST00000001854
AA Change: T486A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: T486A

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 benign
Transcript: ENSMUST00000131048
SMART Domains Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495

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 silent
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 0.0742 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (73/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,241,068 (GRCm39) S1709T probably benign Het
Abcc12 A G 8: 87,287,440 (GRCm39) V135A probably benign Het
Alkbh3 G T 2: 93,838,391 (GRCm39) P60H probably damaging Het
Armc3 A C 2: 19,240,393 (GRCm39) Y50S probably damaging Het
Arpc4 T C 6: 113,362,599 (GRCm39) V70A probably benign Het
Atp13a4 A G 16: 29,273,508 (GRCm39) probably null Het
Bco1 A T 8: 117,857,347 (GRCm39) Y438F probably benign Het
Cacna1b C A 2: 24,653,084 (GRCm39) probably benign Het
Cdh17 C T 4: 11,783,226 (GRCm39) S189L probably damaging Het
Cltc T C 11: 86,621,072 (GRCm39) T312A probably benign Het
Crym T A 7: 119,794,703 (GRCm39) N172I probably benign Het
Depdc7 A G 2: 104,554,913 (GRCm39) probably null Het
Dnhd1 T A 7: 105,363,854 (GRCm39) probably benign Het
Dntt T A 19: 41,046,990 (GRCm39) probably benign Het
Elovl5 T A 9: 77,890,007 (GRCm39) S273T possibly damaging Het
Fat2 A T 11: 55,147,636 (GRCm39) L3869M possibly damaging Het
Garnl3 T C 2: 32,895,241 (GRCm39) probably null Het
Gldc C T 19: 30,128,884 (GRCm39) M196I probably benign Het
Gm17078 C T 14: 51,846,342 (GRCm39) V120M probably damaging Het
Gm5157 G A 7: 20,918,685 (GRCm39) S286F probably damaging Het
Gm6337 C T 14: 6,055,308 (GRCm38) C187Y probably damaging Het
Golgb1 A G 16: 36,736,759 (GRCm39) D2002G probably damaging Het
Gpr179 T C 11: 97,228,675 (GRCm39) N1160S probably damaging Het
Gulo A G 14: 66,235,040 (GRCm39) V227A probably benign Het
Hlcs G A 16: 94,032,085 (GRCm39) A31V probably benign Het
Hs1bp3 T C 12: 8,391,980 (GRCm39) S361P probably benign Het
Ifi44 G A 3: 151,454,946 (GRCm39) P93L probably benign Het
Izumo2 T A 7: 44,362,470 (GRCm39) M78K probably benign Het
Lin54 T C 5: 100,594,530 (GRCm39) E545G probably damaging Het
Map3k13 A T 16: 21,727,454 (GRCm39) I439F possibly damaging Het
Matr3 T G 18: 35,705,640 (GRCm39) S188R probably damaging Het
Mug1 A T 6: 121,858,642 (GRCm39) H1120L Het
Myef2l A T 3: 10,153,406 (GRCm39) L58F probably benign Het
Ndst4 A G 3: 125,474,802 (GRCm39) probably benign Het
Nlrp3 G A 11: 59,455,870 (GRCm39) V889M probably benign Het
Or1x6 A G 11: 50,939,455 (GRCm39) I174V probably benign Het
Or2r2 A G 6: 42,463,212 (GRCm39) M305T probably benign Het
Or5g29 A G 2: 85,421,528 (GRCm39) I215V probably benign Het
Or5m5 A T 2: 85,814,543 (GRCm39) M120L probably benign Het
Or8d4 T A 9: 40,038,480 (GRCm39) Y259F probably damaging Het
P4hb A T 11: 120,458,828 (GRCm39) D182E probably benign Het
Pcdh10 A G 3: 45,338,620 (GRCm39) T926A possibly damaging Het
Pikfyve T C 1: 65,286,129 (GRCm39) S1078P probably benign Het
Plcl2 A T 17: 50,915,790 (GRCm39) D933V probably damaging Het
Pramel7 G A 2: 87,321,612 (GRCm39) T141I probably benign Het
Prepl A T 17: 85,376,354 (GRCm39) C567S probably damaging Het
Prpsap1 A T 11: 116,370,615 (GRCm39) M114K probably damaging Het
Ptk2b A C 14: 66,407,685 (GRCm39) probably null Het
Rest T C 5: 77,430,715 (GRCm39) F1045L possibly damaging Het
Rnf19a A G 15: 36,260,284 (GRCm39) C254R probably damaging Het
Rrad C T 8: 105,355,222 (GRCm39) R262Q possibly damaging Het
Rsf1 GGCG GGCGACTGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Setdb1 T A 3: 95,263,483 (GRCm39) M8L probably benign Het
Setdb2 A G 14: 59,646,956 (GRCm39) S536P probably damaging Het
Sipa1l1 T C 12: 82,404,040 (GRCm39) L511P probably damaging Het
Slc12a9 T A 5: 137,326,755 (GRCm39) H234L probably benign Het
Slc35e2 G T 4: 155,694,542 (GRCm39) G30W probably damaging Het
Slc6a15 T C 10: 103,229,357 (GRCm39) V132A probably damaging Het
Smc5 T C 19: 23,237,126 (GRCm39) Y235C probably benign Het
Sorcs3 T C 19: 48,784,908 (GRCm39) probably null Het
Spata21 T C 4: 140,832,216 (GRCm39) L459P probably damaging Het
Tbc1d9 A G 8: 83,981,452 (GRCm39) I706M probably damaging Het
Tcp11 T A 17: 28,299,204 (GRCm39) E17V probably damaging Het
Tiparp A G 3: 65,439,299 (GRCm39) D23G probably benign Het
Tmem108 A G 9: 103,377,156 (GRCm39) S98P possibly damaging Het
Tmem35b A G 4: 127,021,673 (GRCm39) D56G probably damaging Het
Tnr G C 1: 159,685,867 (GRCm39) G366A probably damaging Het
Ttc3 A G 16: 94,230,358 (GRCm39) S852G possibly damaging Het
Ttn G A 2: 76,596,938 (GRCm39) L19992F probably damaging Het
Ush2a T A 1: 188,132,505 (GRCm39) M909K probably benign Het
Wdr90 G A 17: 26,076,146 (GRCm39) R104C Het
Wif1 A G 10: 120,935,684 (GRCm39) H333R probably benign Het
Zfp119a A G 17: 56,172,551 (GRCm39) C431R probably damaging Het
Zfp345 G A 2: 150,314,277 (GRCm39) P420L probably benign Het
Zfp608 C T 18: 55,033,301 (GRCm39) D411N possibly damaging Het
Zfp609 C T 9: 65,610,561 (GRCm39) A801T possibly damaging Het
Zfp74 A G 7: 29,634,772 (GRCm39) V312A possibly damaging 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
R7026:Slc7a10 UTSW 7 34,898,139 (GRCm39) missense probably damaging 1.00
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
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'- CCTTTCTCCGACAGGTGAAC -3'
(R):5'- CAATCCTTTAAGACAGGGATGACC -3'

Sequencing Primer
(F):5'- GACAGGTGAACCTCCTCGTTC -3'
(R):5'- TCCAGATACCTCCCTTGGGATGG -3'
Posted On 2021-08-31