Incidental Mutation 'R7466:Pam'
| ID |
578741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
045540-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97769972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 599
(D599E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
| AlphaFold |
P97467 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058762
AA Change: D599E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: D599E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu2_monooxygen
|
62 |
178 |
7.8e-27 |
PFAM |
|
Pfam:Cu2_monoox_C
|
199 |
346 |
6.2e-47 |
PFAM |
|
Pfam:NHL
|
633 |
662 |
2.1e-8 |
PFAM |
|
low complexity region
|
673 |
680 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
686 |
714 |
2.7e-8 |
PFAM |
|
Pfam:NHL
|
782 |
809 |
2.8e-7 |
PFAM |
|
transmembrane domain
|
870 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
969 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097625
AA Change: D599E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: D599E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu2_monooxygen
|
60 |
183 |
3.7e-34 |
PFAM |
|
Pfam:Cu2_monoox_C
|
198 |
349 |
1.4e-54 |
PFAM |
|
Pfam:NHL
|
581 |
608 |
9.4e-9 |
PFAM |
|
Pfam:NHL
|
633 |
662 |
2.1e-8 |
PFAM |
|
low complexity region
|
673 |
680 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
686 |
714 |
2.2e-8 |
PFAM |
|
Pfam:NHL
|
782 |
809 |
3.6e-8 |
PFAM |
|
transmembrane domain
|
869 |
891 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
968 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159041
|
| SMART Domains |
Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
50 |
78 |
4.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161567
AA Change: D493E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: D493E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu2_monooxygen
|
60 |
183 |
3.2e-34 |
PFAM |
|
Pfam:Cu2_monoox_C
|
198 |
349 |
1.2e-54 |
PFAM |
|
Pfam:NHL
|
475 |
502 |
8.3e-9 |
PFAM |
|
Pfam:NHL
|
527 |
556 |
1.9e-8 |
PFAM |
|
low complexity region
|
567 |
574 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
580 |
608 |
1.9e-8 |
PFAM |
|
Pfam:NHL
|
676 |
703 |
3.2e-8 |
PFAM |
|
transmembrane domain
|
764 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
863 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162681
|
| SMART Domains |
Protein: ENSMUSP00000125133
Gene: ENSMUSG00000026335
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NHL
|
78 |
105 |
6.2e-8 |
PFAM |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (83/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during fetal growth and development, edema, abnormal yolk sac vasculature, thin arterial walls, and abnormal bronchial epithelial morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI182371 |
T |
A |
2: 34,978,753 (GRCm39) |
K203* |
probably null |
Het |
| Akr1c13 |
T |
C |
13: 4,242,436 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,074 (GRCm39) |
S438G |
probably damaging |
Het |
| Aqp9 |
T |
A |
9: 71,070,543 (GRCm39) |
|
probably null |
Het |
| Art4 |
G |
T |
6: 136,831,848 (GRCm39) |
H98N |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,266,422 (GRCm39) |
S70P |
probably benign |
Het |
| Ccdc61 |
A |
C |
7: 18,625,030 (GRCm39) |
Y503D |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,841,503 (GRCm39) |
N183I |
probably damaging |
Het |
| Cd200r2 |
C |
T |
16: 44,729,537 (GRCm39) |
A64V |
probably damaging |
Het |
| Ceacam9 |
A |
C |
7: 16,457,780 (GRCm39) |
K98Q |
probably benign |
Het |
| Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
G |
T |
2: 28,845,625 (GRCm39) |
D247E |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,227,972 (GRCm39) |
M388T |
probably benign |
Het |
| Chrnb1 |
G |
A |
11: 69,675,476 (GRCm39) |
H493Y |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,667,402 (GRCm39) |
M153R |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,278,987 (GRCm39) |
V77A |
probably benign |
Het |
| Col12a1 |
C |
T |
9: 79,562,689 (GRCm39) |
E1798K |
possibly damaging |
Het |
| Cth |
T |
A |
3: 157,630,522 (GRCm39) |
D49V |
probably benign |
Het |
| Ctnnb1 |
T |
C |
9: 120,784,482 (GRCm39) |
S425P |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,441,129 (GRCm39) |
N690S |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,124,553 (GRCm39) |
L1096P |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,692,568 (GRCm39) |
D26G |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,761,373 (GRCm39) |
D661G |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,502,707 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
C |
T |
4: 136,386,376 (GRCm39) |
R791H |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,687,757 (GRCm39) |
Y22C |
probably benign |
Het |
| F5 |
C |
T |
1: 164,020,897 (GRCm39) |
T1124I |
possibly damaging |
Het |
| Fam220a |
T |
A |
5: 143,549,226 (GRCm39) |
C213S |
possibly damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,258 (GRCm39) |
N605K |
probably damaging |
Het |
| Ganab |
C |
A |
19: 8,891,933 (GRCm39) |
S780* |
probably null |
Het |
| Gbgt1 |
C |
T |
2: 28,392,219 (GRCm39) |
P67S |
probably damaging |
Het |
| Gm17190 |
G |
T |
13: 96,219,287 (GRCm39) |
G208* |
probably null |
Het |
| Grhl2 |
A |
G |
15: 37,291,860 (GRCm39) |
Y316C |
probably damaging |
Het |
| H2-T10 |
T |
C |
17: 36,431,741 (GRCm39) |
T38A |
probably benign |
Het |
| Ins1 |
A |
G |
19: 52,252,858 (GRCm39) |
|
probably benign |
Het |
| Ippk |
T |
C |
13: 49,585,943 (GRCm39) |
|
probably null |
Het |
| Klc4 |
T |
A |
17: 46,950,836 (GRCm39) |
I258F |
probably benign |
Het |
| Manba |
C |
A |
3: 135,248,154 (GRCm39) |
L348I |
probably benign |
Het |
| Mgam |
A |
G |
6: 40,721,723 (GRCm39) |
N347S |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,871,758 (GRCm39) |
T2108A |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,494 (GRCm39) |
L914* |
probably null |
Het |
| Nsa2 |
C |
T |
13: 97,267,728 (GRCm39) |
A242T |
probably benign |
Het |
| Nsd2 |
G |
A |
5: 34,039,491 (GRCm39) |
W834* |
probably null |
Het |
| Or10q3 |
T |
A |
19: 11,847,680 (GRCm39) |
D300V |
possibly damaging |
Het |
| Or5p50 |
A |
T |
7: 107,422,129 (GRCm39) |
C182* |
probably null |
Het |
| Or5w1 |
T |
C |
2: 87,486,740 (GRCm39) |
N175S |
possibly damaging |
Het |
| Or8s16 |
T |
C |
15: 98,211,261 (GRCm39) |
M57V |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,733 (GRCm39) |
K864R |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,912,477 (GRCm39) |
Y195* |
probably null |
Het |
| Plcl2 |
A |
G |
17: 50,915,496 (GRCm39) |
D835G |
probably damaging |
Het |
| Ppm1m |
C |
A |
9: 106,073,356 (GRCm39) |
A329S |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,026,534 (GRCm39) |
V486A |
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,116,067 (GRCm39) |
N182I |
probably damaging |
Het |
| Prkcz |
A |
G |
4: 155,356,059 (GRCm39) |
F355S |
probably damaging |
Het |
| Psg20 |
C |
T |
7: 18,418,392 (GRCm39) |
S125N |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,382,883 (GRCm39) |
D234G |
probably benign |
Het |
| Pvrig-ps |
A |
T |
5: 138,340,270 (GRCm39) |
M14L |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,054,054 (GRCm39) |
|
probably null |
Het |
| Rfc1 |
A |
T |
5: 65,432,769 (GRCm39) |
C764S |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,757,302 (GRCm39) |
D351G |
probably benign |
Het |
| Scart1 |
T |
C |
7: 139,800,619 (GRCm39) |
|
probably null |
Het |
| Serpinb9g |
T |
C |
13: 33,679,150 (GRCm39) |
F340S |
probably benign |
Het |
| Sirpb1c |
C |
A |
3: 15,886,430 (GRCm39) |
L315F |
probably damaging |
Het |
| Slc24a1 |
C |
G |
9: 64,835,686 (GRCm39) |
E814Q |
unknown |
Het |
| Slc26a11 |
A |
T |
11: 119,265,328 (GRCm39) |
Q355L |
probably damaging |
Het |
| Sp100 |
C |
T |
1: 85,634,960 (GRCm39) |
L483F |
possibly damaging |
Het |
| Ston1 |
T |
A |
17: 88,943,329 (GRCm39) |
M245K |
probably benign |
Het |
| Swap70 |
T |
A |
7: 109,873,979 (GRCm39) |
D442E |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,092,960 (GRCm39) |
V450D |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,458,324 (GRCm39) |
N651K |
probably damaging |
Het |
| Timd4 |
A |
T |
11: 46,708,585 (GRCm39) |
T204S |
probably benign |
Het |
| Tmem102 |
A |
G |
11: 69,695,711 (GRCm39) |
L87P |
probably damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,857,339 (GRCm39) |
T325S |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,890,330 (GRCm39) |
V978M |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
| Wdr35 |
G |
A |
12: 9,055,773 (GRCm39) |
V482I |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,496 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
T |
C |
14: 22,036,079 (GRCm39) |
D279G |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,736 (GRCm39) |
C198S |
possibly damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
| Zfyve26 |
C |
T |
12: 79,334,581 (GRCm39) |
E146K |
probably benign |
Het |
| Zkscan6 |
T |
C |
11: 65,719,357 (GRCm39) |
V459A |
probably damaging |
Het |
|
| Other mutations in Pam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Pam
|
APN |
1 |
97,852,152 (GRCm39) |
splice site |
probably benign |
|
|
IGL00485:Pam
|
APN |
1 |
97,750,678 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00597:Pam
|
APN |
1 |
97,762,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01585:Pam
|
APN |
1 |
97,792,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01776:Pam
|
APN |
1 |
97,813,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01981:Pam
|
APN |
1 |
97,762,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Pam
|
APN |
1 |
97,768,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Pam
|
APN |
1 |
97,768,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02882:Pam
|
APN |
1 |
97,768,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03142:Pam
|
APN |
1 |
97,822,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Pam
|
APN |
1 |
97,792,054 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0084:Pam
|
UTSW |
1 |
97,823,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0200:Pam
|
UTSW |
1 |
97,822,126 (GRCm39) |
splice site |
probably null |
|
|
R0520:Pam
|
UTSW |
1 |
97,811,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0734:Pam
|
UTSW |
1 |
97,792,087 (GRCm39) |
nonsense |
probably null |
|
|
R1881:Pam
|
UTSW |
1 |
97,850,876 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2040:Pam
|
UTSW |
1 |
97,792,167 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2106:Pam
|
UTSW |
1 |
97,759,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Pam
|
UTSW |
1 |
97,850,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Pam
|
UTSW |
1 |
97,823,403 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3618:Pam
|
UTSW |
1 |
97,762,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3619:Pam
|
UTSW |
1 |
97,762,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Pam
|
UTSW |
1 |
97,782,481 (GRCm39) |
intron |
probably benign |
|
|
R3848:Pam
|
UTSW |
1 |
97,782,481 (GRCm39) |
intron |
probably benign |
|
|
R3849:Pam
|
UTSW |
1 |
97,782,481 (GRCm39) |
intron |
probably benign |
|
|
R4128:Pam
|
UTSW |
1 |
97,762,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4231:Pam
|
UTSW |
1 |
97,811,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4233:Pam
|
UTSW |
1 |
97,792,119 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4404:Pam
|
UTSW |
1 |
97,782,446 (GRCm39) |
intron |
probably benign |
|
|
R4536:Pam
|
UTSW |
1 |
97,772,424 (GRCm39) |
nonsense |
probably null |
|
|
R4738:Pam
|
UTSW |
1 |
97,850,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Pam
|
UTSW |
1 |
97,749,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Pam
|
UTSW |
1 |
97,768,090 (GRCm39) |
nonsense |
probably null |
|
|
R5572:Pam
|
UTSW |
1 |
97,782,469 (GRCm39) |
intron |
probably benign |
|
|
R5654:Pam
|
UTSW |
1 |
97,792,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5659:Pam
|
UTSW |
1 |
97,770,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Pam
|
UTSW |
1 |
97,762,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6513:Pam
|
UTSW |
1 |
97,765,752 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6696:Pam
|
UTSW |
1 |
97,813,452 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6743:Pam
|
UTSW |
1 |
97,823,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6833:Pam
|
UTSW |
1 |
97,765,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Pam
|
UTSW |
1 |
97,765,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7098:Pam
|
UTSW |
1 |
97,826,072 (GRCm39) |
missense |
probably benign |
|
|
R7117:Pam
|
UTSW |
1 |
97,904,841 (GRCm39) |
start gained |
probably benign |
|
|
R7152:Pam
|
UTSW |
1 |
97,813,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Pam
|
UTSW |
1 |
97,762,203 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7206:Pam
|
UTSW |
1 |
97,823,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Pam
|
UTSW |
1 |
97,782,448 (GRCm39) |
missense |
|
|
|
R7434:Pam
|
UTSW |
1 |
97,903,515 (GRCm39) |
nonsense |
probably null |
|
|
R7513:Pam
|
UTSW |
1 |
97,780,910 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7790:Pam
|
UTSW |
1 |
97,749,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Pam
|
UTSW |
1 |
97,768,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Pam
|
UTSW |
1 |
97,813,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Pam
|
UTSW |
1 |
97,762,199 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8404:Pam
|
UTSW |
1 |
97,823,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Pam
|
UTSW |
1 |
97,762,127 (GRCm39) |
splice site |
probably benign |
|
|
R9092:Pam
|
UTSW |
1 |
97,791,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9229:Pam
|
UTSW |
1 |
97,753,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9261:Pam
|
UTSW |
1 |
97,903,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9409:Pam
|
UTSW |
1 |
97,749,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Pam
|
UTSW |
1 |
97,822,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Pam
|
UTSW |
1 |
97,826,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9500:Pam
|
UTSW |
1 |
97,772,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9510:Pam
|
UTSW |
1 |
97,826,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9653:Pam
|
UTSW |
1 |
97,768,469 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1176:Pam
|
UTSW |
1 |
97,862,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAAGTGAAGATTGATTTAGGC -3'
(R):5'- ATTCGCTTCACAGTTCATTTGGATC -3'
Sequencing Primer
(F):5'- CTCAGAGGCCCAGAATTTAGATCTG -3'
(R):5'- GCTTCACAGTTCATTTGGATCTTTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation