Incidental Mutation 'R4862:Hapln1'
| ID |
374606 |
| 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 |
043260-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
89688654-89759951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89749571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 39
(G39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022108]
|
| AlphaFold |
Q9QUP5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022108
AA Change: G39S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: G39S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225678
|
| Meta Mutation Damage Score |
0.1648 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,747,083 (GRCm39) |
T167A |
probably benign |
Het |
| Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
| Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
| Copb2 |
G |
T |
9: 98,463,320 (GRCm39) |
D512Y |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
| Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
| Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,513,442 (GRCm39) |
Y448C |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
| Ppt1 |
A |
C |
4: 122,738,242 (GRCm39) |
N89T |
probably damaging |
Het |
| Prss3b |
T |
G |
6: 41,009,345 (GRCm39) |
D163A |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
| Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
| Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
| Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
| Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
| Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
| Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
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 |
|
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 |
|
R7917:Hapln1
|
UTSW |
13 |
89,755,997 (GRCm39) |
missense |
probably benign |
0.17 |
|
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'- CCAGCTTTGTAGTGGCTTGC -3'
(R):5'- GACCTTGATAGCCTCCATAGG -3'
Sequencing Primer
(F):5'- TGTAGTGGCTTGCAGGTAAC -3'
(R):5'- CTTCTTGTGATAGCCCATGGAAACG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation