Incidental Mutation 'R7915:Sltm'
| ID |
648028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
045963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7915 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70494431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 927
(R927L)
|
| 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: R927L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: R927L
| 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: R909L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,484,507 (GRCm39) |
H1585P |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,167,414 (GRCm39) |
T1063S |
probably benign |
Het |
| Actc1 |
T |
A |
2: 113,880,967 (GRCm39) |
K86M |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,190 (GRCm39) |
N51S |
probably benign |
Het |
| Arhgap33 |
G |
A |
7: 30,222,648 (GRCm39) |
P1095S |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,447 (GRCm39) |
T357A |
probably benign |
Het |
| C130032M10Rik |
A |
G |
9: 114,345,123 (GRCm39) |
R120G |
unknown |
Het |
| Cadps |
A |
G |
14: 12,705,544 (GRCm38) |
F284L |
possibly damaging |
Het |
| Ccdc83 |
G |
A |
7: 89,893,290 (GRCm39) |
Q156* |
probably null |
Het |
| Cdh20 |
T |
A |
1: 104,861,898 (GRCm39) |
M26K |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,143,668 (GRCm39) |
L2979P |
probably damaging |
Het |
| Cdhr17 |
A |
G |
5: 17,032,012 (GRCm39) |
N556D |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,141,363 (GRCm39) |
L1172P |
probably damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,628 (GRCm39) |
|
probably null |
Het |
| Cyp2j9 |
T |
A |
4: 96,479,621 (GRCm39) |
|
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,677,266 (GRCm39) |
|
probably null |
Het |
| Dio3 |
A |
G |
12: 110,246,473 (GRCm39) |
M270V |
|
Het |
| Dll1 |
C |
A |
17: 15,588,690 (GRCm39) |
D662Y |
probably damaging |
Het |
| Drd1 |
G |
T |
13: 54,207,834 (GRCm39) |
P127T |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,544,206 (GRCm39) |
S652P |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,794,280 (GRCm39) |
M708I |
probably benign |
Het |
| Fam89a |
T |
C |
8: 125,467,895 (GRCm39) |
E139G |
probably damaging |
Het |
| Gpr141 |
T |
C |
13: 19,936,729 (GRCm39) |
I15M |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,731,218 (GRCm39) |
E142K |
unknown |
Het |
| Hivep3 |
T |
A |
4: 119,954,962 (GRCm39) |
S1093T |
possibly damaging |
Het |
| Inpp5f |
C |
A |
7: 128,269,433 (GRCm39) |
T261K |
probably benign |
Het |
| Ints3 |
A |
T |
3: 90,340,132 (GRCm39) |
D42E |
probably benign |
Het |
| Krt90 |
A |
T |
15: 101,466,838 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrig1 |
C |
A |
6: 94,607,082 (GRCm39) |
|
probably null |
Het |
| Mapk14 |
A |
G |
17: 28,947,928 (GRCm39) |
T221A |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,373,807 (GRCm39) |
T202S |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,838,264 (GRCm39) |
F507I |
probably benign |
Het |
| Or7a35 |
A |
G |
10: 78,853,264 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,492,969 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,110 (GRCm39) |
*314L |
probably null |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,630 (GRCm39) |
Y3724* |
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,943,879 (GRCm39) |
D1140G |
probably benign |
Het |
| Pramel22 |
T |
C |
4: 143,382,315 (GRCm39) |
K127R |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,112 (GRCm39) |
S250P |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,162,277 (GRCm39) |
M777K |
possibly damaging |
Het |
| Prrc2c |
A |
C |
1: 162,519,977 (GRCm39) |
S2125A |
probably benign |
Het |
| Ptpn12 |
A |
G |
5: 21,214,449 (GRCm39) |
I229T |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,790,073 (GRCm39) |
V93A |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,865 (GRCm39) |
C376R |
probably benign |
Het |
| Sis |
A |
C |
3: 72,828,471 (GRCm39) |
H1201Q |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slc3a2 |
G |
A |
19: 8,685,182 (GRCm39) |
R535W |
probably damaging |
Het |
| Slc5a2 |
T |
A |
7: 127,864,966 (GRCm39) |
L33Q |
probably damaging |
Het |
| Spaca7b |
T |
C |
8: 11,728,645 (GRCm39) |
T9A |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,190,440 (GRCm39) |
D565G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,173,848 (GRCm39) |
K745R |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,033,113 (GRCm39) |
I71V |
probably damaging |
Het |
| Tgm1 |
T |
C |
14: 55,937,883 (GRCm39) |
D742G |
probably damaging |
Het |
| Tmem128 |
T |
A |
5: 38,423,875 (GRCm39) |
W30R |
probably benign |
Het |
| Tox |
T |
A |
4: 6,822,949 (GRCm39) |
M123L |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,569,413 (GRCm39) |
S547G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,567,539 (GRCm39) |
K27785* |
probably null |
Het |
| Tut7 |
T |
C |
13: 59,932,628 (GRCm39) |
I1345V |
probably benign |
Het |
| Usp38 |
A |
C |
8: 81,727,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,340,956 (GRCm39) |
H2840Q |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,975,731 (GRCm39) |
I229V |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,380 (GRCm39) |
Y81N |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,287,493 (GRCm39) |
D442V |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,813,389 (GRCm39) |
I3296V |
|
Het |
| Wwtr1 |
A |
G |
3: 57,483,020 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- ATGGTATACTGTGCATTTACTGTGC -3'
(R):5'- AAACACGGATCCAAATTCTGTCTG -3'
Sequencing Primer
(F):5'- GAGAAGTCTCTGGACACA -3'
(R):5'- GTAACTCTAGTTCCAGGAGACCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation