Incidental Mutation 'R7166:Sltm'
| ID |
557941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
045227-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70492132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 725
(L725S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049263
AA Change: L725S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: L725S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SAP
|
22 |
56 |
2.49e-10 |
SMART |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
384 |
N/A |
INTRINSIC |
|
RRM
|
385 |
458 |
2.06e-16 |
SMART |
|
low complexity region
|
498 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
601 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216816
AA Change: L707S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217593
AA Change: *665R
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
T |
C |
5: 88,615,387 (GRCm39) |
L272P |
possibly damaging |
Het |
| Ash2l |
C |
A |
8: 26,317,348 (GRCm39) |
G335V |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,966 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
G |
A |
4: 140,734,295 (GRCm39) |
R1139Q |
possibly damaging |
Het |
| Atxn2 |
T |
A |
5: 121,934,460 (GRCm39) |
N886K |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,150 (GRCm39) |
C2512F |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,875,843 (GRCm39) |
V449A |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,758,839 (GRCm39) |
C70* |
probably null |
Het |
| Chfr |
C |
A |
5: 110,306,671 (GRCm39) |
P472Q |
probably benign |
Het |
| Crybg2 |
G |
A |
4: 133,788,193 (GRCm39) |
R22Q |
probably damaging |
Het |
| Eef2k |
T |
C |
7: 120,483,995 (GRCm39) |
F244L |
probably damaging |
Het |
| Efcab11 |
A |
T |
12: 99,849,614 (GRCm39) |
M23K |
|
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,329 (GRCm39) |
I69V |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,967 (GRCm39) |
M114K |
possibly damaging |
Het |
| Fam217a |
T |
C |
13: 35,094,298 (GRCm39) |
Y487C |
probably benign |
Het |
| Farsb |
T |
C |
1: 78,447,821 (GRCm39) |
N205S |
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,405,904 (GRCm39) |
F370S |
probably benign |
Het |
| Gm12258 |
T |
A |
11: 58,749,299 (GRCm39) |
M158K |
|
Het |
| Gm14305 |
T |
A |
2: 176,412,736 (GRCm39) |
H209Q |
probably damaging |
Het |
| Gm4924 |
A |
T |
10: 82,214,035 (GRCm39) |
Q611L |
unknown |
Het |
| H4c11 |
A |
G |
13: 21,919,321 (GRCm39) |
H19R |
unknown |
Het |
| Haus6 |
T |
C |
4: 86,501,924 (GRCm39) |
E649G |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 94,063,585 (GRCm39) |
D345N |
possibly damaging |
Het |
| Htt |
C |
A |
5: 35,010,238 (GRCm39) |
Q1564K |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,355,151 (GRCm39) |
V481I |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,134,960 (GRCm39) |
I531T |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,428 (GRCm39) |
H609Q |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,746,446 (GRCm39) |
S4131T |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,653,889 (GRCm39) |
S31P |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,121 (GRCm39) |
F104L |
possibly damaging |
Het |
| Or4c100 |
A |
T |
2: 88,355,990 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,092 (GRCm39) |
K261N |
probably damaging |
Het |
| Paxx |
A |
T |
2: 25,350,238 (GRCm39) |
L123Q |
probably damaging |
Het |
| Prdm13 |
C |
T |
4: 21,683,528 (GRCm39) |
R144Q |
unknown |
Het |
| Rab2b |
C |
A |
14: 52,516,802 (GRCm39) |
|
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,237 (GRCm39) |
I509T |
probably damaging |
Het |
| Ropn1l |
T |
C |
15: 31,453,655 (GRCm39) |
Q12R |
|
Het |
| Ryr3 |
T |
G |
2: 112,705,373 (GRCm39) |
Y847S |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,648,646 (GRCm39) |
T456S |
possibly damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,331,901 (GRCm39) |
M510K |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,741,036 (GRCm39) |
T537A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,031,939 (GRCm39) |
Y132H |
unknown |
Het |
| Spz1 |
A |
G |
13: 92,712,435 (GRCm39) |
C14R |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,609,301 (GRCm39) |
Q172L |
unknown |
Het |
| Synj2bp |
T |
C |
12: 81,551,289 (GRCm39) |
D92G |
probably benign |
Het |
| Tmem169 |
A |
C |
1: 72,340,229 (GRCm39) |
T220P |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,718,372 (GRCm39) |
I7270F |
unknown |
Het |
| Txndc16 |
T |
G |
14: 45,420,611 (GRCm39) |
N137H |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,976,389 (GRCm39) |
Y2499H |
|
Het |
| Ugt2b38 |
T |
C |
5: 87,558,305 (GRCm39) |
D452G |
probably damaging |
Het |
| Zfp12 |
T |
A |
5: 143,231,257 (GRCm39) |
I560N |
possibly damaging |
Het |
| Zfp60 |
A |
G |
7: 27,448,937 (GRCm39) |
K535R |
possibly damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,761 (GRCm39) |
C492S |
probably damaging |
Het |
|
| Other mutations in Sltm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Sltm
|
APN |
9 |
70,486,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01755:Sltm
|
APN |
9 |
70,491,204 (GRCm39) |
splice site |
probably null |
|
|
IGL01782:Sltm
|
APN |
9 |
70,480,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Sltm
|
APN |
9 |
70,494,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Sltm
|
APN |
9 |
70,492,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Sltm
|
APN |
9 |
70,498,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03166:Sltm
|
APN |
9 |
70,450,251 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0288:Sltm
|
UTSW |
9 |
70,486,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Sltm
|
UTSW |
9 |
70,493,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Sltm
|
UTSW |
9 |
70,469,190 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0863:Sltm
|
UTSW |
9 |
70,469,190 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1315:Sltm
|
UTSW |
9 |
70,450,347 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1533:Sltm
|
UTSW |
9 |
70,493,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Sltm
|
UTSW |
9 |
70,480,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Sltm
|
UTSW |
9 |
70,469,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1845:Sltm
|
UTSW |
9 |
70,450,314 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2049:Sltm
|
UTSW |
9 |
70,488,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2163:Sltm
|
UTSW |
9 |
70,498,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3410:Sltm
|
UTSW |
9 |
70,493,240 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4323:Sltm
|
UTSW |
9 |
70,487,529 (GRCm39) |
missense |
probably benign |
|
|
R4632:Sltm
|
UTSW |
9 |
70,486,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4748:Sltm
|
UTSW |
9 |
70,488,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Sltm
|
UTSW |
9 |
70,498,892 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4782:Sltm
|
UTSW |
9 |
70,496,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Sltm
|
UTSW |
9 |
70,496,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Sltm
|
UTSW |
9 |
70,496,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Sltm
|
UTSW |
9 |
70,486,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Sltm
|
UTSW |
9 |
70,492,081 (GRCm39) |
missense |
unknown |
|
|
R5982:Sltm
|
UTSW |
9 |
70,494,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Sltm
|
UTSW |
9 |
70,488,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6456:Sltm
|
UTSW |
9 |
70,450,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Sltm
|
UTSW |
9 |
70,488,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6720:Sltm
|
UTSW |
9 |
70,480,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6770:Sltm
|
UTSW |
9 |
70,492,059 (GRCm39) |
missense |
unknown |
|
|
R6923:Sltm
|
UTSW |
9 |
70,481,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Sltm
|
UTSW |
9 |
70,466,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Sltm
|
UTSW |
9 |
70,451,247 (GRCm39) |
splice site |
probably null |
|
|
R7400:Sltm
|
UTSW |
9 |
70,493,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Sltm
|
UTSW |
9 |
70,480,748 (GRCm39) |
missense |
unknown |
|
|
R7484:Sltm
|
UTSW |
9 |
70,481,179 (GRCm39) |
missense |
unknown |
|
|
R7630:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7631:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7632:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7633:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7862:Sltm
|
UTSW |
9 |
70,479,446 (GRCm39) |
nonsense |
probably null |
|
|
R7885:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7886:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7888:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7889:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7891:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7915:Sltm
|
UTSW |
9 |
70,494,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Sltm
|
UTSW |
9 |
70,493,261 (GRCm39) |
nonsense |
probably null |
|
|
R8062:Sltm
|
UTSW |
9 |
70,480,779 (GRCm39) |
missense |
unknown |
|
|
R8099:Sltm
|
UTSW |
9 |
70,493,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Sltm
|
UTSW |
9 |
70,469,227 (GRCm39) |
missense |
probably null |
|
|
R8698:Sltm
|
UTSW |
9 |
70,494,352 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9541:Sltm
|
UTSW |
9 |
70,481,057 (GRCm39) |
missense |
unknown |
|
|
R9563:Sltm
|
UTSW |
9 |
70,480,841 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTATGTGTCCCAGGTATGTGC -3'
(R):5'- AAGGCCTGACTTTGAGAACTATC -3'
Sequencing Primer
(F):5'- GTCCCAGGTATGTGCTCTAGC -3'
(R):5'- CTGACTTTGAGAACTATCAACCCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation