Incidental Mutation 'R1396:Zhx3'
| ID |
162629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx3
|
| Ensembl Gene |
ENSMUSG00000035877 |
| Gene Name |
zinc fingers and homeoboxes 3 |
| Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
| MMRRC Submission |
039458-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 160622940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 409
(H409L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
| AlphaFold |
Q8C0Q2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103111
AA Change: H409L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: H409L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
|
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
HOX
|
300 |
362 |
1.48e-6 |
SMART |
|
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
HOX
|
489 |
551 |
2.25e-11 |
SMART |
|
HOX
|
608 |
669 |
2.04e-9 |
SMART |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
HOX
|
759 |
821 |
7.49e-8 |
SMART |
|
Pfam:Homez
|
836 |
888 |
5.2e-26 |
PFAM |
|
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103112
AA Change: H409L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: H409L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
|
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
HOX
|
300 |
362 |
1.48e-6 |
SMART |
|
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
HOX
|
489 |
551 |
2.25e-11 |
SMART |
|
HOX
|
608 |
669 |
2.04e-9 |
SMART |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
HOX
|
759 |
821 |
7.49e-8 |
SMART |
|
Pfam:Homez
|
836 |
888 |
5.2e-26 |
PFAM |
|
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109460
AA Change: H409L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: H409L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
|
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
HOX
|
300 |
362 |
1.48e-6 |
SMART |
|
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
HOX
|
489 |
551 |
2.25e-11 |
SMART |
|
HOX
|
608 |
669 |
2.04e-9 |
SMART |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
HOX
|
759 |
821 |
7.49e-8 |
SMART |
|
Pfam:Homez
|
841 |
888 |
1.3e-17 |
PFAM |
|
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127201
|
| SMART Domains |
Protein: ENSMUSP00000120488
Gene: ENSMUSG00000035877
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176141
|
| SMART Domains |
Protein: ENSMUSP00000134763
Gene: ENSMUSG00000035877
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| Validation Efficiency |
|
| 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 zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 61,001,057 (GRCm39) |
P160S |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,311,558 (GRCm39) |
D1272Y |
probably benign |
Het |
| Akr1c20 |
A |
T |
13: 4,557,726 (GRCm39) |
V267D |
probably damaging |
Het |
| C1s1 |
A |
G |
6: 124,508,010 (GRCm39) |
S660P |
probably damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,987 (GRCm39) |
N248S |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,122,629 (GRCm39) |
T144A |
possibly damaging |
Het |
| Cdk20 |
T |
C |
13: 64,585,217 (GRCm39) |
I167T |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,825,023 (GRCm39) |
L1212S |
probably damaging |
Het |
| Clock |
G |
C |
5: 76,414,649 (GRCm39) |
D15E |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,343,446 (GRCm39) |
V667A |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,561 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
A |
G |
7: 140,352,992 (GRCm39) |
D343G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Etf1 |
G |
A |
18: 35,041,220 (GRCm39) |
T298I |
possibly damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,261 (GRCm39) |
|
probably benign |
Het |
| Gss |
G |
A |
2: 155,409,641 (GRCm39) |
T265I |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,420,927 (GRCm39) |
S406L |
possibly damaging |
Het |
| Hgsnat |
C |
A |
8: 26,447,363 (GRCm39) |
M310I |
possibly damaging |
Het |
| Inpp5b |
G |
A |
4: 124,682,873 (GRCm39) |
R598H |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,140,074 (GRCm39) |
Q253K |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,897,730 (GRCm39) |
M377V |
probably benign |
Het |
| Krt72 |
C |
T |
15: 101,694,440 (GRCm39) |
|
probably null |
Het |
| Lemd2 |
G |
C |
17: 27,409,706 (GRCm39) |
R482G |
probably damaging |
Het |
| Lrpprc |
C |
T |
17: 85,033,731 (GRCm39) |
D1049N |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,587,810 (GRCm39) |
H117Q |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,279,213 (GRCm39) |
F191Y |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,033,949 (GRCm39) |
T252A |
possibly damaging |
Het |
| Mgat4e |
T |
C |
1: 134,469,271 (GRCm39) |
T258A |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,440,168 (GRCm39) |
N542S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,198,261 (GRCm39) |
V184I |
probably benign |
Het |
| Nova1 |
A |
C |
12: 46,863,676 (GRCm39) |
F91L |
unknown |
Het |
| Polk |
T |
C |
13: 96,620,716 (GRCm39) |
I516V |
probably benign |
Het |
| Ppig |
C |
T |
2: 69,579,362 (GRCm39) |
P357S |
unknown |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 156,992,236 (GRCm39) |
H552Q |
probably damaging |
Het |
| Rnf41 |
G |
A |
10: 128,271,440 (GRCm39) |
E117K |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,452 (GRCm39) |
Y306H |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,974,435 (GRCm39) |
S126P |
probably benign |
Het |
| Sfr1 |
A |
G |
19: 47,722,129 (GRCm39) |
K182E |
probably benign |
Het |
| Slc25a4 |
C |
A |
8: 46,662,325 (GRCm39) |
R111L |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
| Stard4 |
A |
T |
18: 33,339,263 (GRCm39) |
N80K |
probably damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,821 (GRCm39) |
T104M |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tmem102 |
A |
T |
11: 69,695,196 (GRCm39) |
W259R |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,743,962 (GRCm39) |
C466S |
probably benign |
Het |
| Tspoap1 |
A |
C |
11: 87,656,946 (GRCm39) |
Q307P |
probably damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,159,389 (GRCm39) |
N528D |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,431,809 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,678 (GRCm39) |
T153M |
probably benign |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,938 (GRCm39) |
S157T |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,230 (GRCm39) |
Y117F |
probably benign |
Het |
| Vmn2r116 |
A |
C |
17: 23,605,115 (GRCm39) |
M143L |
probably benign |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,261 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,862,304 (GRCm39) |
I2974V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,758,847 (GRCm39) |
G769D |
probably damaging |
Het |
|
| Other mutations in Zhx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00530:Zhx3
|
APN |
2 |
160,622,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01759:Zhx3
|
APN |
2 |
160,622,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Zhx3
|
APN |
2 |
160,621,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Zhx3
|
APN |
2 |
160,623,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Zhx3
|
UTSW |
2 |
160,621,914 (GRCm39) |
nonsense |
probably null |
|
|
R0882:Zhx3
|
UTSW |
2 |
160,622,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Zhx3
|
UTSW |
2 |
160,623,613 (GRCm39) |
splice site |
probably null |
|
|
R1646:Zhx3
|
UTSW |
2 |
160,623,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Zhx3
|
UTSW |
2 |
160,622,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2322:Zhx3
|
UTSW |
2 |
160,623,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Zhx3
|
UTSW |
2 |
160,622,368 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3899:Zhx3
|
UTSW |
2 |
160,622,371 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4003:Zhx3
|
UTSW |
2 |
160,622,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4619:Zhx3
|
UTSW |
2 |
160,623,879 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5307:Zhx3
|
UTSW |
2 |
160,621,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5461:Zhx3
|
UTSW |
2 |
160,621,938 (GRCm39) |
missense |
probably benign |
|
|
R5648:Zhx3
|
UTSW |
2 |
160,623,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Zhx3
|
UTSW |
2 |
160,623,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Zhx3
|
UTSW |
2 |
160,621,463 (GRCm39) |
missense |
probably benign |
|
|
R6035:Zhx3
|
UTSW |
2 |
160,621,463 (GRCm39) |
missense |
probably benign |
|
|
R6734:Zhx3
|
UTSW |
2 |
160,623,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6988:Zhx3
|
UTSW |
2 |
160,621,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7032:Zhx3
|
UTSW |
2 |
160,622,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Zhx3
|
UTSW |
2 |
160,623,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Zhx3
|
UTSW |
2 |
160,624,038 (GRCm39) |
nonsense |
probably null |
|
|
R7947:Zhx3
|
UTSW |
2 |
160,623,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Zhx3
|
UTSW |
2 |
160,623,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8152:Zhx3
|
UTSW |
2 |
160,622,695 (GRCm39) |
missense |
probably benign |
|
|
R8831:Zhx3
|
UTSW |
2 |
160,622,691 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8886:Zhx3
|
UTSW |
2 |
160,623,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Zhx3
|
UTSW |
2 |
160,621,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9363:Zhx3
|
UTSW |
2 |
160,621,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9422:Zhx3
|
UTSW |
2 |
160,624,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9687:Zhx3
|
UTSW |
2 |
160,623,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF002:Zhx3
|
UTSW |
2 |
160,623,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Zhx3
|
UTSW |
2 |
160,621,675 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Zhx3
|
UTSW |
2 |
160,622,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGTGTTAATGGGTGCCACAG -3'
(R):5'- GCAGCTATGGACTCCAACAGCTTTC -3'
Sequencing Primer
(F):5'- CCACAGTTGGCTTGGGAAC -3'
(R):5'- ACTGTGGTGACCAAGTATCC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation