Incidental Mutation 'R6444:Znhit1'
ID |
519122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znhit1
|
Ensembl Gene |
ENSMUSG00000059518 |
Gene Name |
zinc finger, HIT domain containing 1 |
Synonyms |
2700001K05Rik |
MMRRC Submission |
044582-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.730)
|
Stock # |
R6444 (G1)
|
Quality Score |
167.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137011048-137016813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137011254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 153
(V153A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004968]
[ENSMUST00000034953]
[ENSMUST00000085941]
[ENSMUST00000111090]
[ENSMUST00000111091]
[ENSMUST00000137272]
[ENSMUST00000156963]
|
AlphaFold |
Q8R331 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004968
|
SMART Domains |
Protein: ENSMUSP00000004968 Gene: ENSMUSG00000004846
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
312 |
324 |
N/A |
INTRINSIC |
Blast:P4Hc
|
456 |
502 |
2e-8 |
BLAST |
P4Hc
|
567 |
740 |
1.43e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034953
|
SMART Domains |
Protein: ENSMUSP00000034953 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
112 |
141 |
6.3e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085941
AA Change: V154A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000083103 Gene: ENSMUSG00000059518 AA Change: V154A
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
113 |
142 |
3e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111090
|
SMART Domains |
Protein: ENSMUSP00000106719 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
112 |
141 |
2.2e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111091
AA Change: V158A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000106720 Gene: ENSMUSG00000059518 AA Change: V158A
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
low complexity region
|
63 |
78 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
117 |
146 |
2.1e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129896
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137272
|
SMART Domains |
Protein: ENSMUSP00000120331 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156963
AA Change: V153A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000115929 Gene: ENSMUSG00000059518 AA Change: V153A
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
112 |
141 |
6.7e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
|
Other mutations in Znhit1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00577:Znhit1
|
APN |
5 |
137,011,437 (GRCm39) |
nonsense |
probably null |
|
IGL02401:Znhit1
|
APN |
5 |
137,011,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Znhit1
|
UTSW |
5 |
137,013,901 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5107:Znhit1
|
UTSW |
5 |
137,015,682 (GRCm39) |
missense |
probably benign |
|
R5240:Znhit1
|
UTSW |
5 |
137,011,235 (GRCm39) |
splice site |
probably null |
|
R5710:Znhit1
|
UTSW |
5 |
137,011,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R6148:Znhit1
|
UTSW |
5 |
137,011,487 (GRCm39) |
missense |
probably benign |
0.00 |
R6683:Znhit1
|
UTSW |
5 |
137,011,487 (GRCm39) |
missense |
probably benign |
0.00 |
R8985:Znhit1
|
UTSW |
5 |
137,011,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R9566:Znhit1
|
UTSW |
5 |
137,015,785 (GRCm39) |
intron |
probably benign |
|
X0028:Znhit1
|
UTSW |
5 |
137,013,854 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCCCAGAATGAGCAGGC -3'
(R):5'- ATCCCCGTATACCTGTGTGAGC -3'
Sequencing Primer
(F):5'- AGGCCGTTTATTATCACAGCAC -3'
(R):5'- CCGTATACCTGTGTGAGCTGTGG -3'
|
Posted On |
2018-05-24 |