Incidental Mutation 'R3943:Hltf'
| ID |
307529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hltf
|
| Ensembl Gene |
ENSMUSG00000002428 |
| Gene Name |
helicase-like transcription factor |
| Synonyms |
Snf2l3, Smarca3, P113 |
| MMRRC Submission |
040924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20111975-20172654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20146908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 494
(I494F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002502]
[ENSMUST00000143005]
[ENSMUST00000145853]
|
| AlphaFold |
Q6PCN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002502
AA Change: I556F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428
AA Change: I556F
| Domain | Start | End | E-Value | Type |
|---|
|
HIRAN
|
60 |
154 |
3.78e-29 |
SMART |
|
DEXDc
|
236 |
608 |
1.26e-32 |
SMART |
|
RING
|
754 |
794 |
4.41e-6 |
SMART |
|
low complexity region
|
814 |
828 |
N/A |
INTRINSIC |
|
HELICc
|
859 |
944 |
2.24e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128127
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143005
AA Change: I556F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428
AA Change: I556F
| Domain | Start | End | E-Value | Type |
|---|
|
HIRAN
|
60 |
154 |
3.78e-29 |
SMART |
|
DEXDc
|
236 |
610 |
2.36e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145853
AA Change: I494F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428
AA Change: I494F
| Domain | Start | End | E-Value | Type |
|---|
|
HIRAN
|
1 |
92 |
2.7e-25 |
SMART |
|
DEXDc
|
174 |
548 |
2.36e-23 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (49/50) |
| 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 SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, spongiform encephalopathy with increased brain apoptosis, and hypoglycemia. Mice homozygous for a different knock-out allele fail to show fluoxetine-induced neurogenesis and behavioral responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
| Camkv |
T |
A |
9: 107,825,182 (GRCm39) |
D366E |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
| Or7g27 |
T |
A |
9: 19,250,371 (GRCm39) |
M205K |
probably benign |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Vwa2 |
T |
G |
19: 56,897,747 (GRCm39) |
L684R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,396 (GRCm39) |
Q377R |
probably benign |
Het |
| Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
probably benign |
Het |
|
| Other mutations in Hltf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Hltf
|
APN |
3 |
20,159,796 (GRCm39) |
splice site |
probably benign |
|
|
IGL01461:Hltf
|
APN |
3 |
20,154,103 (GRCm39) |
nonsense |
probably null |
|
|
IGL01630:Hltf
|
APN |
3 |
20,137,068 (GRCm39) |
splice site |
probably benign |
|
|
IGL01704:Hltf
|
APN |
3 |
20,137,910 (GRCm39) |
splice site |
probably benign |
|
|
IGL02059:Hltf
|
APN |
3 |
20,160,621 (GRCm39) |
missense |
probably benign |
|
|
IGL02105:Hltf
|
APN |
3 |
20,146,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Hltf
|
APN |
3 |
20,146,971 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02870:Hltf
|
APN |
3 |
20,154,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02899:Hltf
|
APN |
3 |
20,153,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02935:Hltf
|
APN |
3 |
20,123,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02950:Hltf
|
APN |
3 |
20,130,736 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03082:Hltf
|
APN |
3 |
20,118,723 (GRCm39) |
splice site |
probably benign |
|
|
snarky
|
UTSW |
3 |
20,163,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0068:Hltf
|
UTSW |
3 |
20,113,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Hltf
|
UTSW |
3 |
20,160,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Hltf
|
UTSW |
3 |
20,163,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0980:Hltf
|
UTSW |
3 |
20,145,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1741:Hltf
|
UTSW |
3 |
20,140,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Hltf
|
UTSW |
3 |
20,130,685 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1799:Hltf
|
UTSW |
3 |
20,159,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Hltf
|
UTSW |
3 |
20,160,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Hltf
|
UTSW |
3 |
20,113,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Hltf
|
UTSW |
3 |
20,146,906 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2444:Hltf
|
UTSW |
3 |
20,118,071 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3789:Hltf
|
UTSW |
3 |
20,123,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Hltf
|
UTSW |
3 |
20,118,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4793:Hltf
|
UTSW |
3 |
20,118,114 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5296:Hltf
|
UTSW |
3 |
20,162,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5449:Hltf
|
UTSW |
3 |
20,123,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5492:Hltf
|
UTSW |
3 |
20,152,231 (GRCm39) |
splice site |
probably null |
|
|
R6012:Hltf
|
UTSW |
3 |
20,113,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Hltf
|
UTSW |
3 |
20,130,660 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6254:Hltf
|
UTSW |
3 |
20,117,993 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6553:Hltf
|
UTSW |
3 |
20,126,558 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6616:Hltf
|
UTSW |
3 |
20,163,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6696:Hltf
|
UTSW |
3 |
20,119,470 (GRCm39) |
splice site |
probably null |
|
|
R6761:Hltf
|
UTSW |
3 |
20,137,996 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6781:Hltf
|
UTSW |
3 |
20,152,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7241:Hltf
|
UTSW |
3 |
20,119,556 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7356:Hltf
|
UTSW |
3 |
20,163,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Hltf
|
UTSW |
3 |
20,136,916 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7765:Hltf
|
UTSW |
3 |
20,145,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7978:Hltf
|
UTSW |
3 |
20,146,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Hltf
|
UTSW |
3 |
20,136,986 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8547:Hltf
|
UTSW |
3 |
20,152,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Hltf
|
UTSW |
3 |
20,159,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8859:Hltf
|
UTSW |
3 |
20,119,566 (GRCm39) |
nonsense |
probably null |
|
|
R8926:Hltf
|
UTSW |
3 |
20,123,323 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8959:Hltf
|
UTSW |
3 |
20,136,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Hltf
|
UTSW |
3 |
20,152,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Hltf
|
UTSW |
3 |
20,140,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9405:Hltf
|
UTSW |
3 |
20,137,094 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9565:Hltf
|
UTSW |
3 |
20,136,996 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0027:Hltf
|
UTSW |
3 |
20,121,553 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACAGTGCCAGGAACCTTG -3'
(R):5'- TGATACTGACATCAAGTTCCTCCG -3'
Sequencing Primer
(F):5'- TGCCAGGAACCTTGTAAGAGTTG -3'
(R):5'- GACATCAAGTTCCTCCGTGAATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation