Incidental Mutation 'R7991:Srebf2'
| ID |
651761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srebf2
|
| Ensembl Gene |
ENSMUSG00000022463 |
| Gene Name |
sterol regulatory element binding factor 2 |
| Synonyms |
SREBP-2, bHLHd2, nuc, SREBP2, lop13, SREBP2gc |
| MMRRC Submission |
046032-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82088253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1073
(D1073G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000179269]
[ENSMUST00000229336]
[ENSMUST00000229543]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023100
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
235 |
N/A |
INTRINSIC |
|
HLH
|
325 |
375 |
3.54e-15 |
SMART |
|
low complexity region
|
383 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179269
|
| SMART Domains |
Protein: ENSMUSP00000137002
Gene: ENSMUSG00000096883
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
55 |
189 |
1.7e-33 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229336
AA Change: D1073G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230955
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display prenatal lethality. Mice homozygous for an ENU mutation display cataracts and persistent wounds of the skin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,185,726 (GRCm39) |
D1200G |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,537 (GRCm39) |
L624P |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,114,949 (GRCm39) |
|
probably null |
Het |
| Ap2a2 |
A |
G |
7: 141,189,760 (GRCm39) |
Y249C |
probably damaging |
Het |
| Asxl2 |
A |
T |
12: 3,534,531 (GRCm39) |
N243Y |
probably damaging |
Het |
| Btnl4 |
A |
G |
17: 34,693,257 (GRCm39) |
S53P |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,651,513 (GRCm39) |
D116G |
possibly damaging |
Het |
| Ccdc121rt2 |
G |
A |
5: 112,598,791 (GRCm39) |
R446H |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,098,869 (GRCm39) |
H743L |
probably benign |
Het |
| Ccdc81 |
G |
A |
7: 89,539,609 (GRCm39) |
A209V |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,101,887 (GRCm39) |
S347P |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,828,489 (GRCm39) |
A194S |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,756 (GRCm39) |
V206A |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,658,500 (GRCm39) |
V905E |
possibly damaging |
Het |
| Cluap1 |
A |
G |
16: 3,746,485 (GRCm39) |
E282G |
probably damaging |
Het |
| Cmtm2b |
T |
A |
8: 105,056,419 (GRCm39) |
C109* |
probably null |
Het |
| Crtac1 |
T |
C |
19: 42,322,399 (GRCm39) |
N114D |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,013,634 (GRCm39) |
Y168H |
|
Het |
| Dock6 |
T |
C |
9: 21,757,858 (GRCm39) |
D82G |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Erfl |
G |
A |
7: 24,627,975 (GRCm39) |
P185S |
possibly damaging |
Het |
| Fh1 |
T |
C |
1: 175,437,337 (GRCm39) |
Y254C |
probably damaging |
Het |
| H2-Q1 |
T |
A |
17: 35,540,356 (GRCm39) |
L147Q |
probably damaging |
Het |
| H3c8 |
T |
A |
13: 23,719,887 (GRCm39) |
M91K |
probably benign |
Het |
| Hnrnpu |
A |
T |
1: 178,159,871 (GRCm39) |
D403E |
unknown |
Het |
| Il34 |
T |
C |
8: 111,476,122 (GRCm39) |
K33E |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,934,434 (GRCm39) |
V195A |
possibly damaging |
Het |
| Lair1 |
G |
T |
7: 4,031,969 (GRCm39) |
T46N |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,805 (GRCm39) |
E442G |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,202,963 (GRCm39) |
I400F |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,908,771 (GRCm39) |
I14T |
probably benign |
Het |
| Or13p10 |
T |
A |
4: 118,523,489 (GRCm39) |
C258* |
probably null |
Het |
| Or1ad8 |
T |
G |
11: 50,898,071 (GRCm39) |
S91A |
possibly damaging |
Het |
| Or4z4 |
A |
C |
19: 12,076,190 (GRCm39) |
V271G |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,760 (GRCm39) |
L8P |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,275,639 (GRCm39) |
I286F |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,335,419 (GRCm39) |
I23T |
probably benign |
Het |
| Papss2 |
G |
T |
19: 32,629,403 (GRCm39) |
V331F |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,909 (GRCm39) |
S667P |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,607,390 (GRCm39) |
S75T |
probably benign |
Het |
| Phf20l1 |
A |
C |
15: 66,502,768 (GRCm39) |
D716A |
possibly damaging |
Het |
| Pkd1 |
A |
G |
17: 24,791,595 (GRCm39) |
E1094G |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,618,152 (GRCm39) |
K104E |
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,509,750 (GRCm39) |
Y195C |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,340,031 (GRCm39) |
L265Q |
probably benign |
Het |
| Prc1 |
A |
T |
7: 79,961,969 (GRCm39) |
N489I |
possibly damaging |
Het |
| Prss59 |
A |
C |
6: 40,905,444 (GRCm39) |
|
probably null |
Het |
| Psg22 |
A |
C |
7: 18,460,861 (GRCm39) |
N497H |
probably damaging |
Het |
| Pum3 |
T |
A |
19: 27,389,620 (GRCm39) |
I411F |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rev3l |
A |
T |
10: 39,739,734 (GRCm39) |
I2861L |
possibly damaging |
Het |
| Rsf1 |
A |
C |
7: 97,310,540 (GRCm39) |
K423N |
|
Het |
| Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,170,654 (GRCm39) |
E216G |
probably benign |
Het |
| Sppl2c |
T |
C |
11: 104,078,640 (GRCm39) |
V480A |
possibly damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,189 (GRCm39) |
T330A |
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
| Tbc1d4 |
T |
A |
14: 101,845,715 (GRCm39) |
E61V |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,926,983 (GRCm39) |
T848S |
probably benign |
Het |
| Trmt5 |
A |
G |
12: 73,329,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,132,583 (GRCm39) |
V399A |
possibly damaging |
Het |
| Tstd2 |
T |
C |
4: 46,133,646 (GRCm39) |
T59A |
unknown |
Het |
| Ubash3a |
T |
A |
17: 31,456,869 (GRCm39) |
L510M |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,783,200 (GRCm39) |
I713N |
probably damaging |
Het |
| Upf3a |
A |
G |
8: 13,842,166 (GRCm39) |
E194G |
probably damaging |
Het |
| Usp22 |
A |
T |
11: 61,065,588 (GRCm39) |
Y42N |
probably benign |
Het |
| Vav3 |
T |
A |
3: 109,470,478 (GRCm39) |
C555S |
probably damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,684 (GRCm39) |
M201L |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,554,051 (GRCm39) |
Q194K |
probably benign |
Het |
|
| Other mutations in Srebf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Srebf2
|
APN |
15 |
82,076,404 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01409:Srebf2
|
APN |
15 |
82,055,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Srebf2
|
APN |
15 |
82,061,663 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01614:Srebf2
|
APN |
15 |
82,063,054 (GRCm39) |
missense |
probably benign |
|
|
IGL01985:Srebf2
|
APN |
15 |
82,076,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02423:Srebf2
|
APN |
15 |
82,059,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02436:Srebf2
|
APN |
15 |
82,081,928 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02805:Srebf2
|
APN |
15 |
82,054,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02818:Srebf2
|
APN |
15 |
82,069,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02823:Srebf2
|
APN |
15 |
82,083,975 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02895:Srebf2
|
APN |
15 |
82,031,668 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03064:Srebf2
|
APN |
15 |
82,076,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03378:Srebf2
|
APN |
15 |
82,053,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Srebf2
|
UTSW |
15 |
82,069,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:Srebf2
|
UTSW |
15 |
82,069,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4737:Srebf2
|
UTSW |
15 |
82,069,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Srebf2
|
UTSW |
15 |
82,069,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Srebf2
|
UTSW |
15 |
82,066,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Srebf2
|
UTSW |
15 |
82,061,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Srebf2
|
UTSW |
15 |
82,061,790 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1241:Srebf2
|
UTSW |
15 |
82,061,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Srebf2
|
UTSW |
15 |
82,087,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Srebf2
|
UTSW |
15 |
82,079,155 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2395:Srebf2
|
UTSW |
15 |
82,076,456 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3771:Srebf2
|
UTSW |
15 |
82,066,309 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3772:Srebf2
|
UTSW |
15 |
82,066,309 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3773:Srebf2
|
UTSW |
15 |
82,066,309 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4030:Srebf2
|
UTSW |
15 |
82,062,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Srebf2
|
UTSW |
15 |
82,069,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4670:Srebf2
|
UTSW |
15 |
82,076,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Srebf2
|
UTSW |
15 |
82,080,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4812:Srebf2
|
UTSW |
15 |
82,088,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5058:Srebf2
|
UTSW |
15 |
82,066,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5063:Srebf2
|
UTSW |
15 |
82,061,652 (GRCm39) |
missense |
probably benign |
|
|
R5155:Srebf2
|
UTSW |
15 |
82,080,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5166:Srebf2
|
UTSW |
15 |
82,069,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Srebf2
|
UTSW |
15 |
82,080,409 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5398:Srebf2
|
UTSW |
15 |
82,055,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Srebf2
|
UTSW |
15 |
82,079,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5668:Srebf2
|
UTSW |
15 |
82,076,456 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5867:Srebf2
|
UTSW |
15 |
82,053,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Srebf2
|
UTSW |
15 |
82,061,477 (GRCm39) |
splice site |
probably null |
|
|
R6030:Srebf2
|
UTSW |
15 |
82,061,477 (GRCm39) |
splice site |
probably null |
|
|
R6928:Srebf2
|
UTSW |
15 |
82,087,924 (GRCm39) |
nonsense |
probably null |
|
|
R7269:Srebf2
|
UTSW |
15 |
82,088,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:Srebf2
|
UTSW |
15 |
82,057,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7632:Srebf2
|
UTSW |
15 |
82,069,497 (GRCm39) |
missense |
probably benign |
|
|
R7831:Srebf2
|
UTSW |
15 |
82,066,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7895:Srebf2
|
UTSW |
15 |
82,061,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7938:Srebf2
|
UTSW |
15 |
82,057,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Srebf2
|
UTSW |
15 |
82,062,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Srebf2
|
UTSW |
15 |
82,062,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Srebf2
|
UTSW |
15 |
82,062,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Srebf2
|
UTSW |
15 |
82,062,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Srebf2
|
UTSW |
15 |
82,062,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Srebf2
|
UTSW |
15 |
82,062,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Srebf2
|
UTSW |
15 |
82,056,975 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9188:Srebf2
|
UTSW |
15 |
82,066,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9284:Srebf2
|
UTSW |
15 |
82,066,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9366:Srebf2
|
UTSW |
15 |
82,083,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9727:Srebf2
|
UTSW |
15 |
82,076,506 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0064:Srebf2
|
UTSW |
15 |
82,059,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Srebf2
|
UTSW |
15 |
82,079,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGCCAGCAGATGATTGTC -3'
(R):5'- AGACAGTCTCTAGAGGACTGGG -3'
Sequencing Primer
(F):5'- CCAGCAGATGATTGTCAAGCTG -3'
(R):5'- TCTCTAGAGGACTGGGAGGGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation