Incidental Mutation 'R2964:Ing1'
| ID |
255976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ing1
|
| Ensembl Gene |
ENSMUSG00000045969 |
| Gene Name |
inhibitor of growth family, member 1 |
| Synonyms |
mING1h, 2610028J21Rik, p33Ing1 |
| MMRRC Submission |
040520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R2964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
11605762-11613251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11611641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 26
(S26R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054399]
[ENSMUST00000209565]
[ENSMUST00000209646]
[ENSMUST00000210041]
[ENSMUST00000210670]
[ENSMUST00000210740]
[ENSMUST00000211007]
|
| AlphaFold |
Q9QXV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054399
AA Change: S120R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062593
Gene: ENSMUSG00000045969
AA Change: S120R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
15 |
113 |
1.4e-33 |
PFAM |
|
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
199 |
N/A |
INTRINSIC |
|
PHD
|
212 |
257 |
2.23e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209565
AA Change: S26R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209646
AA Change: S26R
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210041
AA Change: S26R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210740
AA Change: S26R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211007
AA Change: S26R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display a slight decrease in body weight, moderately impaired maternal nurturing, increased sensitivity to gamma-irradiation, and increased incidence of B-cell derived lymphomas. [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 |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
| Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
| H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
| Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
Het |
|
| Other mutations in Ing1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01461:Ing1
|
APN |
8 |
11,611,453 (GRCm39) |
missense |
probably benign |
0.33 |
|
F5770:Ing1
|
UTSW |
8 |
11,611,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Ing1
|
UTSW |
8 |
11,611,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0546:Ing1
|
UTSW |
8 |
11,607,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Ing1
|
UTSW |
8 |
11,611,502 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1295:Ing1
|
UTSW |
8 |
11,611,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Ing1
|
UTSW |
8 |
11,607,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Ing1
|
UTSW |
8 |
11,611,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Ing1
|
UTSW |
8 |
11,611,641 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4559:Ing1
|
UTSW |
8 |
11,612,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6884:Ing1
|
UTSW |
8 |
11,611,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Ing1
|
UTSW |
8 |
11,611,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7778:Ing1
|
UTSW |
8 |
11,611,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7824:Ing1
|
UTSW |
8 |
11,611,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9537:Ing1
|
UTSW |
8 |
11,611,889 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9731:Ing1
|
UTSW |
8 |
11,611,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7583:Ing1
|
UTSW |
8 |
11,611,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGAGCTGGACGACTAC -3'
(R):5'- TTGCACAGACAGTACGTGGG -3'
Sequencing Primer
(F):5'- CTGGACGACTACTATGAGAAGTTC -3'
(R):5'- AGGAGACGCTTCCCTCTCTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation