Incidental Mutation 'R7484:Sltm'
| ID |
580000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
045558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7484 (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 70481179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 344
(S344P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000213808]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000049263
AA Change: S344P
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: S344P
| 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 benign
Transcript: ENSMUST00000213808
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216816
AA Change: S326P
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217593
AA Change: S344P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.0914 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
G |
4: 144,504,521 (GRCm39) |
L210P |
probably damaging |
Het |
| Acacb |
G |
A |
5: 114,356,923 (GRCm39) |
V1285I |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,386,789 (GRCm39) |
I591N |
probably damaging |
Het |
| Acr |
T |
A |
15: 89,457,427 (GRCm39) |
V225E |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,714,925 (GRCm39) |
D580G |
probably damaging |
Het |
| Adamts12 |
C |
A |
15: 11,345,734 (GRCm39) |
Q1592K |
probably benign |
Het |
| Aire |
T |
C |
10: 77,878,404 (GRCm39) |
E138G |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,056,884 (GRCm39) |
Q1789* |
probably null |
Het |
| Cbx5 |
A |
C |
15: 103,114,256 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
A |
T |
11: 114,819,345 (GRCm39) |
W95R |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,827,605 (GRCm39) |
T504A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,389,018 (GRCm39) |
S1605P |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,114,455 (GRCm39) |
V596A |
possibly damaging |
Het |
| Cntn1 |
T |
C |
15: 92,151,922 (GRCm39) |
W454R |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,223,099 (GRCm39) |
T104A |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,289,760 (GRCm39) |
D209G |
possibly damaging |
Het |
| Ddx23 |
T |
C |
15: 98,546,570 (GRCm39) |
E533G |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,660,744 (GRCm39) |
|
probably null |
Het |
| Eif3l |
T |
G |
15: 78,968,336 (GRCm39) |
C202G |
probably benign |
Het |
| Ephx4 |
T |
G |
5: 107,577,612 (GRCm39) |
M312R |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,534,112 (GRCm39) |
|
probably null |
Het |
| Far2 |
G |
A |
6: 148,075,411 (GRCm39) |
D424N |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,489,221 (GRCm39) |
N3497K |
probably damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,870,499 (GRCm39) |
H700L |
probably benign |
Het |
| Gm8356 |
T |
A |
14: 17,691,282 (GRCm39) |
M128L |
probably benign |
Het |
| Golim4 |
G |
T |
3: 75,805,442 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
G |
10: 10,622,403 (GRCm39) |
D440A |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,529,747 (GRCm39) |
V322A |
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,243,407 (GRCm39) |
|
probably null |
Het |
| Igfals |
G |
A |
17: 25,098,962 (GRCm39) |
V18M |
possibly damaging |
Het |
| Klk1b24 |
G |
T |
7: 43,839,688 (GRCm39) |
|
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,551,850 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
C |
3: 157,746,194 (GRCm39) |
S90P |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,763,663 (GRCm39) |
Y185H |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,748,068 (GRCm39) |
G337D |
probably damaging |
Het |
| Mga |
G |
T |
2: 119,776,710 (GRCm39) |
R1539L |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,563,442 (GRCm39) |
S342T |
probably benign |
Het |
| Ms4a6c |
T |
C |
19: 11,449,893 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,558,064 (GRCm39) |
H2743L |
unknown |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or10ag60 |
T |
C |
2: 87,438,281 (GRCm39) |
F183S |
probably damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,753 (GRCm39) |
H55R |
possibly damaging |
Het |
| Plcd3 |
T |
G |
11: 102,962,545 (GRCm39) |
K635N |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,632,301 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
C |
1: 6,344,441 (GRCm39) |
V1570A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,704 (GRCm39) |
N1803D |
probably benign |
Het |
| Rufy3 |
T |
A |
5: 88,746,331 (GRCm39) |
V72E |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,613,452 (GRCm39) |
Q181* |
probably null |
Het |
| Sgcb |
A |
G |
5: 73,797,188 (GRCm39) |
F191L |
possibly damaging |
Het |
| Sgsh |
T |
A |
11: 119,237,183 (GRCm39) |
D477V |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,062,286 (GRCm39) |
V924E |
probably damaging |
Het |
| Slc22a28 |
C |
A |
19: 8,048,492 (GRCm39) |
S385I |
probably benign |
Het |
| Slc26a3 |
T |
C |
12: 31,497,787 (GRCm39) |
V47A |
probably benign |
Het |
| Slco2a1 |
A |
T |
9: 102,945,185 (GRCm39) |
I187F |
probably damaging |
Het |
| Sort1 |
A |
G |
3: 108,246,141 (GRCm39) |
T373A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,882,274 (GRCm39) |
F474L |
probably benign |
Het |
| Tbc1d5 |
G |
T |
17: 51,224,573 (GRCm39) |
A326E |
possibly damaging |
Het |
| Tcstv4 |
A |
T |
13: 120,770,017 (GRCm39) |
K112N |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,951,562 (GRCm39) |
T425I |
probably benign |
Het |
| Zfp30 |
T |
C |
7: 29,492,231 (GRCm39) |
Y243H |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,559 (GRCm39) |
N55K |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,435 (GRCm39) |
L295P |
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 |
|
R7166:Sltm
|
UTSW |
9 |
70,492,132 (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 |
|
|
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'- AGATGTGCAGGACGCCATTG -3'
(R):5'- CAATGCACTCAGGACACTGC -3'
Sequencing Primer
(F):5'- AGGACGCCATTGCACAG -3'
(R):5'- GCACTCAGGACACTGCATATTATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation