Incidental Mutation 'R9229:Pam'
| ID |
700059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9229 (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 G
at 97753660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 870
(V870A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
| AlphaFold |
P97467 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058762
AA Change: V870A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V870A
| 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 benign
Transcript: ENSMUST00000097625
AA Change: V869A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V869A
| 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 |
possibly damaging
Transcript: ENSMUST00000161567
AA Change: V764A
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: V764A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| Actr10 |
A |
G |
12: 70,990,259 (GRCm39) |
T104A |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,774,270 (GRCm39) |
V1065I |
unknown |
Het |
| Agpat1 |
G |
T |
17: 34,830,663 (GRCm39) |
V196L |
probably null |
Het |
| Agxt2 |
T |
A |
15: 10,409,597 (GRCm39) |
V499E |
probably damaging |
Het |
| Amy2a1 |
T |
A |
3: 113,325,955 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,479,314 (GRCm39) |
S51T |
probably benign |
Het |
| Armc12 |
A |
C |
17: 28,751,345 (GRCm39) |
D113A |
probably benign |
Het |
| Azin1 |
T |
A |
15: 38,490,646 (GRCm39) |
I436F |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,166,107 (GRCm39) |
V334A |
probably damaging |
Het |
| Ccdc68 |
C |
T |
18: 70,080,203 (GRCm39) |
H183Y |
probably benign |
Het |
| Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,606,833 (GRCm39) |
W795R |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,802,176 (GRCm39) |
E130K |
possibly damaging |
Het |
| Ciao1 |
G |
C |
2: 127,089,062 (GRCm39) |
C52W |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,176 (GRCm39) |
S971P |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,384,960 (GRCm39) |
L9* |
probably null |
Het |
| Coro1c |
G |
T |
5: 114,003,747 (GRCm39) |
H91N |
probably damaging |
Het |
| Crbn |
A |
T |
6: 106,777,017 (GRCm39) |
M1K |
probably null |
Het |
| Ctsb |
T |
A |
14: 63,373,112 (GRCm39) |
W90R |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,595,862 (GRCm39) |
I185V |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,981,100 (GRCm39) |
E105* |
probably null |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,141 (GRCm39) |
I201V |
possibly damaging |
Het |
| Exoc5 |
G |
A |
14: 49,251,710 (GRCm39) |
Q679* |
probably null |
Het |
| Firrm |
A |
T |
1: 163,794,659 (GRCm39) |
W512R |
probably damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,268 (GRCm39) |
R433C |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,709,689 (GRCm39) |
M1I |
probably null |
Het |
| H1f6 |
T |
C |
13: 23,880,029 (GRCm39) |
S61P |
probably damaging |
Het |
| Hoxb6 |
A |
T |
11: 96,191,645 (GRCm39) |
Q189L |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,524,600 (GRCm39) |
N304S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htra4 |
A |
T |
8: 25,528,557 (GRCm39) |
C112S |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,261,598 (GRCm39) |
T715A |
|
Het |
| Ipo13 |
A |
T |
4: 117,758,801 (GRCm39) |
I688N |
probably damaging |
Het |
| Irs2 |
A |
C |
8: 11,057,400 (GRCm39) |
L344R |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,987 (GRCm39) |
T1781A |
unknown |
Het |
| Lin7a |
G |
T |
10: 107,247,844 (GRCm39) |
V172L |
probably damaging |
Het |
| Lpcat1 |
G |
T |
13: 73,653,650 (GRCm39) |
E282D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,063,584 (GRCm39) |
T963A |
probably benign |
Het |
| Mfsd14a |
G |
A |
3: 116,439,118 (GRCm39) |
A128V |
probably benign |
Het |
| Mfsd6 |
C |
G |
1: 52,747,903 (GRCm39) |
G321R |
probably damaging |
Het |
| Mill2 |
C |
T |
7: 18,590,475 (GRCm39) |
T185I |
probably damaging |
Het |
| Mpped1 |
C |
T |
15: 83,738,673 (GRCm39) |
T270I |
possibly damaging |
Het |
| Mrtfb |
G |
T |
16: 13,230,185 (GRCm39) |
A957S |
possibly damaging |
Het |
| Myh9 |
T |
A |
15: 77,675,017 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,304,052 (GRCm39) |
T953S |
possibly damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,799 (GRCm39) |
S429T |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,913,376 (GRCm39) |
Y1003N |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,310,339 (GRCm39) |
K1588R |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,127,324 (GRCm39) |
R963L |
possibly damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,165 (GRCm39) |
V31I |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,611,414 (GRCm39) |
V313D |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
C |
A |
2: 28,352,390 (GRCm39) |
M124I |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,315 (GRCm39) |
V155E |
probably damaging |
Het |
| Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,873,503 (GRCm39) |
V170I |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,089 (GRCm39) |
C458* |
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,283 (GRCm39) |
H361R |
probably null |
Het |
| Pvalb |
T |
A |
15: 78,086,767 (GRCm39) |
I50F |
possibly damaging |
Het |
| Relch |
A |
T |
1: 105,614,709 (GRCm39) |
I218F |
possibly damaging |
Het |
| Rhag |
G |
A |
17: 41,142,081 (GRCm39) |
A175T |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,200,983 (GRCm39) |
V291A |
possibly damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,042,295 (GRCm39) |
E525K |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,720,971 (GRCm39) |
F747S |
possibly damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,141,300 (GRCm39) |
I1144L |
probably benign |
Het |
| Sox1 |
A |
T |
8: 12,447,390 (GRCm39) |
I344F |
possibly damaging |
Het |
| Speer4e2 |
A |
T |
5: 15,027,718 (GRCm39) |
S53T |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,067,750 (GRCm39) |
E2059V |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,017,050 (GRCm39) |
N52K |
possibly damaging |
Het |
| Sva |
T |
A |
6: 42,017,052 (GRCm39) |
M53K |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,849,027 (GRCm39) |
Y913C |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,634,719 (GRCm39) |
S864P |
possibly damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,779 (GRCm39) |
V16A |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,673,774 (GRCm39) |
S262G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,797 (GRCm39) |
D19705E |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,594,239 (GRCm39) |
L2162P |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,791,723 (GRCm39) |
I549V |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,851,156 (GRCm39) |
N329S |
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,723,886 (GRCm39) |
H390L |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,583,117 (GRCm39) |
S512F |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,393 (GRCm39) |
H847R |
probably benign |
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 |
|
|
R7466:Pam
|
UTSW |
1 |
97,769,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GAGGTTCCTAGTGATAATTAGGCC -3'
(R):5'- CACATCCAGTGGTCTCAACAAG -3'
Sequencing Primer
(F):5'- CCTAGTGATAATTAGGCCAGACATGC -3'
(R):5'- CCAGTGGTCTCAACAAGTTCTTGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation