Incidental Mutation 'R6215:Glis2'
| ID |
503678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis2
|
| Ensembl Gene |
ENSMUSG00000014303 |
| Gene Name |
GLIS family zinc finger 2 |
| Synonyms |
Nkl |
| MMRRC Submission |
044348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.890)
|
| Stock # |
R6215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4412577-4442788 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 4428197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 83
(L83*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014447]
[ENSMUST00000141682]
|
| AlphaFold |
Q8VDL9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014447
AA Change: L83*
|
| SMART Domains |
Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303
AA Change: L83*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
100 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
168 |
193 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
202 |
229 |
8.09e0 |
SMART |
|
ZnF_C2H2
|
235 |
257 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
263 |
287 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
293 |
317 |
1.04e-3 |
SMART |
|
low complexity region
|
328 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135577
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141682
AA Change: L83*
|
| SMART Domains |
Protein: ENSMUSP00000115728
Gene: ENSMUSG00000014303
AA Change: L83*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
100 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
| Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
| Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
|
| Other mutations in Glis2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Glis2
|
APN |
16 |
4,429,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01680:Glis2
|
APN |
16 |
4,429,195 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02055:Glis2
|
APN |
16 |
4,431,972 (GRCm39) |
unclassified |
probably benign |
|
|
Ginsburg
|
UTSW |
16 |
4,428,197 (GRCm39) |
nonsense |
probably null |
|
|
IGL02802:Glis2
|
UTSW |
16 |
4,429,735 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0081:Glis2
|
UTSW |
16 |
4,431,517 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0517:Glis2
|
UTSW |
16 |
4,429,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2010:Glis2
|
UTSW |
16 |
4,426,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2145:Glis2
|
UTSW |
16 |
4,431,506 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3780:Glis2
|
UTSW |
16 |
4,431,760 (GRCm39) |
unclassified |
probably benign |
|
|
R4180:Glis2
|
UTSW |
16 |
4,429,240 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5213:Glis2
|
UTSW |
16 |
4,431,946 (GRCm39) |
unclassified |
probably benign |
|
|
R6012:Glis2
|
UTSW |
16 |
4,429,172 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6052:Glis2
|
UTSW |
16 |
4,431,603 (GRCm39) |
unclassified |
probably benign |
|
|
R6214:Glis2
|
UTSW |
16 |
4,428,197 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Glis2
|
UTSW |
16 |
4,431,700 (GRCm39) |
unclassified |
probably benign |
|
|
R7172:Glis2
|
UTSW |
16 |
4,431,339 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7286:Glis2
|
UTSW |
16 |
4,429,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7346:Glis2
|
UTSW |
16 |
4,431,432 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7816:Glis2
|
UTSW |
16 |
4,431,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Glis2
|
UTSW |
16 |
4,429,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9573:Glis2
|
UTSW |
16 |
4,429,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Glis2
|
UTSW |
16 |
4,426,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Glis2
|
UTSW |
16 |
4,429,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACTATGCTAGCTGTTCC -3'
(R):5'- TCGAACTCAGAAATCCGCCTG -3'
Sequencing Primer
(F):5'- ACTATGCTAGCTGTTCCTTGGATGTC -3'
(R):5'- AGAAATCCGCCTGCCTCTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation