Incidental Mutation 'IGL02429:Slc38a10'
ID |
293075 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc38a10
|
Ensembl Gene |
ENSMUSG00000061306 |
Gene Name |
solute carrier family 38, member 10 |
Synonyms |
1810073N04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02429
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 120025714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000053692]
[ENSMUST00000076697]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
AlphaFold |
Q5I012 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045402
|
SMART Domains |
Protein: ENSMUSP00000048675 Gene: ENSMUSG00000061306
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
398 |
1.5e-54 |
PFAM |
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
coiled coil region
|
699 |
735 |
N/A |
INTRINSIC |
low complexity region
|
827 |
837 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1019 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000053692
|
SMART Domains |
Protein: ENSMUSP00000057615 Gene: ENSMUSG00000061306
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076697
|
SMART Domains |
Protein: ENSMUSP00000075989 Gene: ENSMUSG00000061306
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103018
|
SMART Domains |
Protein: ENSMUSP00000099307 Gene: ENSMUSG00000061306
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
398 |
8.5e-55 |
PFAM |
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
coiled coil region
|
707 |
743 |
N/A |
INTRINSIC |
low complexity region
|
835 |
845 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1027 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135605
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150315
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179094
|
SMART Domains |
Protein: ENSMUSP00000136719 Gene: ENSMUSG00000061306
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
398 |
1e-54 |
PFAM |
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
coiled coil region
|
707 |
743 |
N/A |
INTRINSIC |
low complexity region
|
835 |
845 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1027 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154444
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
A |
T |
1: 127,687,453 (GRCm39) |
D245V |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,935,289 (GRCm39) |
|
probably benign |
Het |
Arhgap36 |
A |
G |
X: 48,583,583 (GRCm39) |
D77G |
possibly damaging |
Het |
Asap1 |
A |
T |
15: 64,039,589 (GRCm39) |
M187K |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,407,548 (GRCm39) |
V2145A |
probably benign |
Het |
Ccn6 |
T |
C |
10: 39,030,989 (GRCm39) |
N178S |
probably benign |
Het |
Cd46 |
T |
C |
1: 194,767,732 (GRCm39) |
T110A |
probably benign |
Het |
Chl1 |
T |
A |
6: 103,641,770 (GRCm39) |
|
probably benign |
Het |
Clca3b |
A |
G |
3: 144,533,896 (GRCm39) |
L493S |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,261,266 (GRCm39) |
T72M |
probably damaging |
Het |
Cyfip1 |
T |
A |
7: 55,521,730 (GRCm39) |
|
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,302,390 (GRCm39) |
|
probably benign |
Het |
Glyr1 |
A |
G |
16: 4,837,240 (GRCm39) |
M397T |
probably benign |
Het |
Golm2 |
A |
G |
2: 121,742,468 (GRCm39) |
T306A |
probably benign |
Het |
Gtf2a1l |
G |
T |
17: 88,976,141 (GRCm39) |
M1I |
probably null |
Het |
Hdac4 |
A |
G |
1: 91,940,417 (GRCm39) |
L154P |
probably benign |
Het |
Ints8 |
A |
T |
4: 11,231,720 (GRCm39) |
C422S |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,830,829 (GRCm39) |
K160I |
probably damaging |
Het |
Lrrc23 |
C |
A |
6: 124,755,130 (GRCm39) |
A136S |
probably damaging |
Het |
Ltf |
T |
C |
9: 110,855,193 (GRCm39) |
I402T |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,956,237 (GRCm39) |
H509R |
probably benign |
Het |
Mthfd1l |
A |
G |
10: 4,039,334 (GRCm39) |
K782E |
probably damaging |
Het |
Mvb12b |
G |
A |
2: 33,717,800 (GRCm39) |
R114W |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,149,808 (GRCm39) |
K1818* |
probably null |
Het |
Myo1h |
C |
T |
5: 114,497,799 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 27,000,598 (GRCm39) |
S1402T |
probably benign |
Het |
Nutm2 |
A |
G |
13: 50,623,516 (GRCm39) |
N71S |
probably benign |
Het |
Oas1c |
C |
A |
5: 120,940,133 (GRCm39) |
M344I |
probably benign |
Het |
Or10g7 |
T |
A |
9: 39,905,138 (GRCm39) |
F11I |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,612,247 (GRCm39) |
L1019P |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,718,453 (GRCm39) |
E494G |
probably benign |
Het |
Pole |
T |
C |
5: 110,447,666 (GRCm39) |
I734T |
probably benign |
Het |
Ppp1r3b |
T |
C |
8: 35,851,769 (GRCm39) |
S203P |
probably benign |
Het |
Pth2r |
G |
T |
1: 65,385,998 (GRCm39) |
M240I |
probably benign |
Het |
Ptprr |
T |
A |
10: 116,109,672 (GRCm39) |
F394I |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,239,329 (GRCm39) |
S265P |
possibly damaging |
Het |
Rbpjl |
A |
G |
2: 164,255,815 (GRCm39) |
D353G |
possibly damaging |
Het |
Rfc3 |
A |
G |
5: 151,574,596 (GRCm39) |
Y8H |
probably benign |
Het |
Rph3a |
A |
T |
5: 121,118,187 (GRCm39) |
|
probably null |
Het |
Runx1t1 |
A |
T |
4: 13,865,294 (GRCm39) |
|
probably benign |
Het |
Slc37a1 |
T |
A |
17: 31,519,483 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
T |
C |
12: 73,397,342 (GRCm39) |
V328A |
probably benign |
Het |
Slf2 |
T |
C |
19: 44,930,167 (GRCm39) |
S415P |
probably benign |
Het |
Spata17 |
C |
A |
1: 186,872,631 (GRCm39) |
R60L |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,118,369 (GRCm39) |
D2237E |
probably benign |
Het |
Swap70 |
T |
A |
7: 109,863,179 (GRCm39) |
N169K |
probably benign |
Het |
Tnfrsf11a |
A |
G |
1: 105,755,443 (GRCm39) |
D505G |
probably benign |
Het |
Traf1 |
A |
G |
2: 34,839,115 (GRCm39) |
V70A |
probably benign |
Het |
Traf3 |
T |
A |
12: 111,209,899 (GRCm39) |
V165E |
probably benign |
Het |
Trpc5 |
T |
C |
X: 143,194,795 (GRCm39) |
E570G |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,460,279 (GRCm39) |
N601S |
probably benign |
Het |
Vmn2r30 |
C |
T |
7: 7,337,243 (GRCm39) |
C131Y |
possibly damaging |
Het |
Vmn2r43 |
T |
C |
7: 8,258,551 (GRCm39) |
I221V |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,150,596 (GRCm39) |
V481E |
possibly damaging |
Het |
|
Other mutations in Slc38a10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Slc38a10
|
APN |
11 |
120,029,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00236:Slc38a10
|
APN |
11 |
119,997,428 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01420:Slc38a10
|
APN |
11 |
119,997,286 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01704:Slc38a10
|
APN |
11 |
120,041,913 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01747:Slc38a10
|
APN |
11 |
120,025,600 (GRCm39) |
splice site |
probably benign |
|
IGL02295:Slc38a10
|
APN |
11 |
120,007,684 (GRCm39) |
splice site |
probably benign |
|
IGL02300:Slc38a10
|
APN |
11 |
120,001,116 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03155:Slc38a10
|
APN |
11 |
119,995,945 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03396:Slc38a10
|
APN |
11 |
120,019,301 (GRCm39) |
missense |
probably damaging |
1.00 |
Cascade
|
UTSW |
11 |
120,038,645 (GRCm39) |
missense |
probably damaging |
1.00 |
cherries
|
UTSW |
11 |
120,041,903 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
Ore
|
UTSW |
11 |
120,025,679 (GRCm39) |
missense |
probably damaging |
1.00 |
rainier
|
UTSW |
11 |
120,020,138 (GRCm39) |
nonsense |
probably null |
|
slag
|
UTSW |
11 |
120,023,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Slc38a10
|
UTSW |
11 |
120,001,138 (GRCm39) |
missense |
probably benign |
0.11 |
R0068:Slc38a10
|
UTSW |
11 |
120,025,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Slc38a10
|
UTSW |
11 |
120,025,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0069:Slc38a10
|
UTSW |
11 |
119,997,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Slc38a10
|
UTSW |
11 |
120,041,903 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R0743:Slc38a10
|
UTSW |
11 |
120,031,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Slc38a10
|
UTSW |
11 |
119,996,301 (GRCm39) |
missense |
probably benign |
|
R2101:Slc38a10
|
UTSW |
11 |
120,023,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R2367:Slc38a10
|
UTSW |
11 |
120,001,087 (GRCm39) |
missense |
probably benign |
0.12 |
R4280:Slc38a10
|
UTSW |
11 |
120,028,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R4282:Slc38a10
|
UTSW |
11 |
120,020,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R5206:Slc38a10
|
UTSW |
11 |
119,995,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R5658:Slc38a10
|
UTSW |
11 |
119,996,218 (GRCm39) |
missense |
probably benign |
0.11 |
R6114:Slc38a10
|
UTSW |
11 |
120,020,138 (GRCm39) |
nonsense |
probably null |
|
R6118:Slc38a10
|
UTSW |
11 |
120,023,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Slc38a10
|
UTSW |
11 |
120,038,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Slc38a10
|
UTSW |
11 |
120,015,208 (GRCm39) |
missense |
probably benign |
0.01 |
R6428:Slc38a10
|
UTSW |
11 |
119,996,298 (GRCm39) |
missense |
probably benign |
0.09 |
R7764:Slc38a10
|
UTSW |
11 |
119,995,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7835:Slc38a10
|
UTSW |
11 |
120,007,822 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8790:Slc38a10
|
UTSW |
11 |
120,023,519 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9151:Slc38a10
|
UTSW |
11 |
120,007,762 (GRCm39) |
missense |
probably benign |
0.00 |
R9227:Slc38a10
|
UTSW |
11 |
119,996,781 (GRCm39) |
missense |
probably benign |
0.20 |
R9230:Slc38a10
|
UTSW |
11 |
119,996,781 (GRCm39) |
missense |
probably benign |
0.20 |
X0062:Slc38a10
|
UTSW |
11 |
120,007,726 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Posted On |
2015-04-16 |