Incidental Mutation 'R7917:Hapln1'
| ID |
648154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hapln1
|
| Ensembl Gene |
ENSMUSG00000021613 |
| Gene Name |
hyaluronan and proteoglycan link protein 1 |
| Synonyms |
LP-1, cartilage linking protein 1, Crtl1l, link protein, CLP, Crtl1 |
| MMRRC Submission |
045965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
89688654-89759951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89755997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 267
(I267T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022108]
|
| AlphaFold |
Q9QUP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022108
AA Change: I267T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: I267T
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
58 |
143 |
3.48e-12 |
SMART |
|
LINK
|
159 |
256 |
7.26e-61 |
SMART |
|
LINK
|
260 |
353 |
8.35e-52 |
SMART |
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
T |
11: 109,958,933 (GRCm39) |
H730Q |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,408 (GRCm39) |
D506G |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,823,190 (GRCm39) |
M1T |
probably null |
Het |
| Ccnc |
T |
A |
4: 21,748,158 (GRCm39) |
N273K |
possibly damaging |
Het |
| Cfdp1 |
C |
A |
8: 112,567,033 (GRCm39) |
V159L |
possibly damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,334,638 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
T |
13: 38,351,615 (GRCm39) |
Q145* |
probably null |
Het |
| Exosc9 |
G |
A |
3: 36,607,968 (GRCm39) |
V59I |
probably damaging |
Het |
| Fermt2 |
C |
G |
14: 45,699,318 (GRCm39) |
R592T |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,211,875 (GRCm39) |
S2381P |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,082 (GRCm39) |
E335K |
possibly damaging |
Het |
| Hdac9 |
T |
A |
12: 34,483,209 (GRCm39) |
I93L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,899,706 (GRCm39) |
D535G |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,451,165 (GRCm39) |
F9I |
possibly damaging |
Het |
| Il3ra |
T |
A |
14: 14,350,773 (GRCm38) |
H262Q |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mtg1 |
A |
T |
7: 139,727,178 (GRCm39) |
D227V |
probably damaging |
Het |
| Nrcam |
T |
G |
12: 44,620,546 (GRCm39) |
|
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,686 (GRCm39) |
T212A |
probably damaging |
Het |
| Or4f57 |
A |
C |
2: 111,791,310 (GRCm39) |
V36G |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,905 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdha1 |
T |
A |
18: 37,065,254 (GRCm39) |
D639E |
possibly damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,669 (GRCm39) |
V575E |
possibly damaging |
Het |
| Pcif1 |
G |
T |
2: 164,730,392 (GRCm39) |
R375L |
probably benign |
Het |
| Pcna |
A |
T |
2: 132,094,929 (GRCm39) |
S10T |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,333,518 (GRCm39) |
S168P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,885,650 (GRCm39) |
D1842E |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,040 (GRCm39) |
N117Y |
probably damaging |
Het |
| Scnn1g |
T |
C |
7: 121,342,916 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,113,409 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,708,372 (GRCm39) |
V361A |
possibly damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,300 (GRCm39) |
L243Q |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,069,213 (GRCm39) |
T646I |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 821,274 (GRCm39) |
I86V |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,727 (GRCm39) |
S720P |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,421 (GRCm39) |
N879D |
possibly damaging |
Het |
| Zfp266 |
T |
C |
9: 20,416,423 (GRCm39) |
T56A |
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,358,991 (GRCm39) |
I541N |
probably damaging |
Het |
|
| Other mutations in Hapln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Hapln1
|
APN |
13 |
89,756,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00494:Hapln1
|
APN |
13 |
89,753,590 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01865:Hapln1
|
APN |
13 |
89,749,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02706:Hapln1
|
APN |
13 |
89,753,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02990:Hapln1
|
APN |
13 |
89,749,725 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0033:Hapln1
|
UTSW |
13 |
89,749,932 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0058:Hapln1
|
UTSW |
13 |
89,755,997 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0058:Hapln1
|
UTSW |
13 |
89,755,997 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0127:Hapln1
|
UTSW |
13 |
89,755,988 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0519:Hapln1
|
UTSW |
13 |
89,732,835 (GRCm39) |
start gained |
probably benign |
|
|
R3862:Hapln1
|
UTSW |
13 |
89,753,418 (GRCm39) |
nonsense |
probably null |
|
|
R3982:Hapln1
|
UTSW |
13 |
89,753,560 (GRCm39) |
missense |
probably benign |
|
|
R4717:Hapln1
|
UTSW |
13 |
89,753,579 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4861:Hapln1
|
UTSW |
13 |
89,749,571 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4861:Hapln1
|
UTSW |
13 |
89,749,571 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4862:Hapln1
|
UTSW |
13 |
89,749,571 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4899:Hapln1
|
UTSW |
13 |
89,749,769 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5402:Hapln1
|
UTSW |
13 |
89,753,530 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5629:Hapln1
|
UTSW |
13 |
89,749,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6019:Hapln1
|
UTSW |
13 |
89,756,219 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7938:Hapln1
|
UTSW |
13 |
89,753,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8312:Hapln1
|
UTSW |
13 |
89,749,563 (GRCm39) |
missense |
probably benign |
|
|
R8345:Hapln1
|
UTSW |
13 |
89,732,902 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Hapln1
|
UTSW |
13 |
89,749,617 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATACAAGGGCGTGTGTGAGC -3'
(R):5'- TCTTGGTCGAGAAATAGGATAGC -3'
Sequencing Primer
(F):5'- GCAAATGTATTTAATCTAGAGTGGCC -3'
(R):5'- TCGAGAAATAGGATAGCGGACGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation