Incidental Mutation 'R9586:Slc10a7'
| ID |
722800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc10a7
|
| Ensembl Gene |
ENSMUSG00000031684 |
| Gene Name |
solute carrier family 10 (sodium/bile acid cotransporter family), member 7 |
| Synonyms |
2410193C02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.840)
|
| Stock # |
R9586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
79235975-79460632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79456266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 289
(I289M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034111]
[ENSMUST00000209490]
[ENSMUST00000209992]
[ENSMUST00000210515]
[ENSMUST00000210630]
[ENSMUST00000211286]
|
| AlphaFold |
Q5PT53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034111
AA Change: I289M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: I289M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF_like
|
10 |
324 |
1.9e-82 |
PFAM |
|
Pfam:SBF
|
44 |
224 |
2.9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209490
AA Change: I247M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209992
AA Change: I261M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210630
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211286
AA Change: I289M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip5 |
C |
T |
6: 97,206,572 (GRCm39) |
A84V |
possibly damaging |
Het |
| Cep170 |
G |
A |
1: 176,563,463 (GRCm39) |
P716L |
possibly damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,480 (GRCm39) |
C519S |
probably damaging |
Het |
| Dnase1l3 |
A |
T |
14: 7,967,796 (GRCm38) |
V299D |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,139,746 (GRCm39) |
L945P |
|
Het |
| Fstl4 |
A |
T |
11: 53,077,729 (GRCm39) |
I829L |
probably benign |
Het |
| Gm36210 |
T |
A |
7: 4,909,324 (GRCm39) |
R45* |
probably null |
Het |
| Homer2 |
C |
T |
7: 81,260,113 (GRCm39) |
R318Q |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,314,478 (GRCm39) |
E76K |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,754,623 (GRCm39) |
R703* |
probably null |
Het |
| Insyn2a |
T |
C |
7: 134,520,180 (GRCm39) |
T117A |
probably damaging |
Het |
| Lonp1 |
G |
A |
17: 56,924,839 (GRCm39) |
R523C |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,703,820 (GRCm39) |
V1881I |
possibly damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,244 (GRCm39) |
D249G |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,932,635 (GRCm39) |
|
probably null |
Het |
| Oog3 |
A |
T |
4: 143,884,966 (GRCm39) |
C323* |
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,881,138 (GRCm39) |
R3G |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,047 (GRCm39) |
I838M |
probably damaging |
Het |
| Rps6kc1 |
C |
A |
1: 190,514,774 (GRCm39) |
M1006I |
probably benign |
Het |
| Rpusd1 |
A |
G |
17: 25,947,292 (GRCm39) |
T37A |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,496,096 (GRCm39) |
R47S |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,891 (GRCm39) |
T122I |
probably benign |
Het |
| Slc25a37 |
G |
T |
14: 69,482,421 (GRCm39) |
N293K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,458,039 (GRCm39) |
A3281T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,985,832 (GRCm39) |
N559K |
possibly damaging |
Het |
| Tmem87b |
T |
A |
2: 128,660,260 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r199 |
C |
T |
13: 22,567,716 (GRCm39) |
R337C |
probably benign |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,770 (GRCm39) |
N218Y |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,742 (GRCm39) |
Q574P |
|
Het |
| Vmn2r45 |
T |
C |
7: 8,486,050 (GRCm39) |
N413D |
probably benign |
Het |
| Wdr33 |
T |
C |
18: 31,966,669 (GRCm39) |
S170P |
probably damaging |
Het |
| Zfp385a |
A |
T |
15: 103,241,580 (GRCm39) |
I20N |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,932,017 (GRCm39) |
S39G |
possibly damaging |
Het |
|
| Other mutations in Slc10a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Slc10a7
|
APN |
8 |
79,425,209 (GRCm39) |
splice site |
probably benign |
|
|
IGL01589:Slc10a7
|
APN |
8 |
79,456,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01868:Slc10a7
|
APN |
8 |
79,423,965 (GRCm39) |
splice site |
probably null |
|
|
IGL02197:Slc10a7
|
APN |
8 |
79,242,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02205:Slc10a7
|
APN |
8 |
79,423,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03128:Slc10a7
|
APN |
8 |
79,251,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Slc10a7
|
UTSW |
8 |
79,423,787 (GRCm39) |
splice site |
probably null |
|
|
R0134:Slc10a7
|
UTSW |
8 |
79,423,787 (GRCm39) |
splice site |
probably null |
|
|
R1973:Slc10a7
|
UTSW |
8 |
79,423,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2266:Slc10a7
|
UTSW |
8 |
79,236,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2362:Slc10a7
|
UTSW |
8 |
79,236,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Slc10a7
|
UTSW |
8 |
79,433,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5454:Slc10a7
|
UTSW |
8 |
79,413,253 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5753:Slc10a7
|
UTSW |
8 |
79,251,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6621:Slc10a7
|
UTSW |
8 |
79,242,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Slc10a7
|
UTSW |
8 |
79,425,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7977:Slc10a7
|
UTSW |
8 |
79,423,843 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7987:Slc10a7
|
UTSW |
8 |
79,423,843 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9141:Slc10a7
|
UTSW |
8 |
79,236,241 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9684:Slc10a7
|
UTSW |
8 |
79,456,304 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGTGAGAGGTACCTCCC -3'
(R):5'- TCAGTCTATCTGCATCCAAGTC -3'
Sequencing Primer
(F):5'- GTGTTCCAGTTAGAACTTAGAGCC -3'
(R):5'- AGTCTATCTGCATCCAAGTCAGATC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation