Incidental Mutation 'R5604:Adam6b'
| ID |
439204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
043156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 113454420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 412
(Y412*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063317
AA Change: Y412*
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: Y412*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
30 |
167 |
1.1e-16 |
PFAM |
|
Pfam:Reprolysin
|
223 |
407 |
1.1e-14 |
PFAM |
|
DISIN
|
427 |
502 |
9.2e-33 |
SMART |
|
ACR
|
503 |
640 |
2.74e-60 |
SMART |
|
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,556,278 (GRCm39) |
N164I |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 88,295,125 (GRCm39) |
R88S |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,067,168 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,516,279 (GRCm39) |
I4406K |
probably damaging |
Het |
| Ahcyl2 |
C |
T |
6: 29,908,366 (GRCm39) |
H370Y |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,862,904 (GRCm39) |
Y693C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 52,999,076 (GRCm39) |
Y129* |
probably null |
Het |
| Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
| Antxr2 |
T |
C |
5: 98,096,169 (GRCm39) |
K372E |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,612,210 (GRCm39) |
H198Y |
probably benign |
Het |
| Barhl2 |
T |
C |
5: 106,603,412 (GRCm39) |
E249G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,957,747 (GRCm39) |
E987G |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,290,788 (GRCm39) |
T490M |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,303,159 (GRCm39) |
V78A |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,866,701 (GRCm39) |
Y374H |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,271 (GRCm39) |
R1939H |
probably benign |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,256 (GRCm39) |
F19S |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| E4f1 |
A |
G |
17: 24,663,118 (GRCm39) |
I729T |
probably damaging |
Het |
| Endou |
A |
C |
15: 97,618,800 (GRCm39) |
S75A |
probably benign |
Het |
| Epas1 |
C |
T |
17: 87,113,200 (GRCm39) |
H129Y |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,622,479 (GRCm39) |
N415Y |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,583 (GRCm39) |
S429R |
probably benign |
Het |
| Hnf4g |
C |
T |
3: 3,722,186 (GRCm39) |
Q447* |
probably null |
Het |
| Htr6 |
C |
T |
4: 138,788,814 (GRCm39) |
A414T |
probably benign |
Het |
| Insig1 |
T |
C |
5: 28,280,080 (GRCm39) |
L224P |
probably damaging |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,667,792 (GRCm39) |
S458T |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,007 (GRCm39) |
S1142P |
possibly damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,996,462 (GRCm39) |
N379I |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 69,084,917 (GRCm39) |
D609E |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,572,405 (GRCm39) |
T537A |
probably benign |
Het |
| Lce1i |
A |
T |
3: 92,685,056 (GRCm39) |
V40E |
unknown |
Het |
| Mprip |
T |
A |
11: 59,649,293 (GRCm39) |
V999D |
probably benign |
Het |
| Myd88 |
G |
T |
9: 119,168,829 (GRCm39) |
T85K |
possibly damaging |
Het |
| Or1e35 |
T |
A |
11: 73,797,853 (GRCm39) |
H155L |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,458,473 (GRCm39) |
M473K |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,401,935 (GRCm39) |
S97C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,783,877 (GRCm39) |
D2026V |
probably damaging |
Het |
| Plcxd1 |
T |
C |
5: 110,250,451 (GRCm39) |
V264A |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,198,580 (GRCm39) |
S558P |
probably damaging |
Het |
| Ppm1a |
T |
A |
12: 72,837,455 (GRCm39) |
M334K |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,524 (GRCm39) |
S684P |
possibly damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,990,369 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,936 (GRCm39) |
K753E |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,271,201 (GRCm39) |
R373C |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,658,140 (GRCm39) |
L765I |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
| Setd2 |
T |
A |
9: 110,433,284 (GRCm39) |
D62E |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,769,577 (GRCm39) |
Y327N |
unknown |
Het |
| Ticam1 |
G |
A |
17: 56,578,756 (GRCm39) |
T113I |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,773,459 (GRCm39) |
I1134V |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,707,399 (GRCm39) |
Y526* |
probably null |
Het |
| Tph2 |
T |
C |
10: 114,926,614 (GRCm39) |
E384G |
probably damaging |
Het |
| Ttll11 |
A |
T |
2: 35,707,798 (GRCm39) |
I503N |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 67,665,945 (GRCm39) |
K172N |
probably damaging |
Het |
|
| Other mutations in Adam6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Adam6b
|
APN |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00800:Adam6b
|
APN |
12 |
113,454,062 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01456:Adam6b
|
APN |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02232:Adam6b
|
APN |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03039:Adam6b
|
APN |
12 |
113,454,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Adam6b
|
APN |
12 |
113,454,728 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03412:Adam6b
|
APN |
12 |
113,455,390 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Adam6b
|
UTSW |
12 |
113,454,275 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0402:Adam6b
|
UTSW |
12 |
113,453,615 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0420:Adam6b
|
UTSW |
12 |
113,453,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0573:Adam6b
|
UTSW |
12 |
113,455,278 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0884:Adam6b
|
UTSW |
12 |
113,454,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Adam6b
|
UTSW |
12 |
113,455,071 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1542:Adam6b
|
UTSW |
12 |
113,454,559 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1591:Adam6b
|
UTSW |
12 |
113,453,452 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1596:Adam6b
|
UTSW |
12 |
113,454,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Adam6b
|
UTSW |
12 |
113,454,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1699:Adam6b
|
UTSW |
12 |
113,454,205 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1818:Adam6b
|
UTSW |
12 |
113,454,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1829:Adam6b
|
UTSW |
12 |
113,453,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Adam6b
|
UTSW |
12 |
113,455,442 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1955:Adam6b
|
UTSW |
12 |
113,455,436 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2040:Adam6b
|
UTSW |
12 |
113,454,364 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3820:Adam6b
|
UTSW |
12 |
113,453,984 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4112:Adam6b
|
UTSW |
12 |
113,453,256 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4434:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4435:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4437:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4509:Adam6b
|
UTSW |
12 |
113,453,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5034:Adam6b
|
UTSW |
12 |
113,454,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Adam6b
|
UTSW |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5331:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5698:Adam6b
|
UTSW |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5877:Adam6b
|
UTSW |
12 |
113,453,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Adam6b
|
UTSW |
12 |
113,455,330 (GRCm39) |
missense |
probably benign |
|
|
R6254:Adam6b
|
UTSW |
12 |
113,453,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:Adam6b
|
UTSW |
12 |
113,453,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6617:Adam6b
|
UTSW |
12 |
113,454,152 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6768:Adam6b
|
UTSW |
12 |
113,453,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7002:Adam6b
|
UTSW |
12 |
113,453,327 (GRCm39) |
nonsense |
probably null |
|
|
R7003:Adam6b
|
UTSW |
12 |
113,453,662 (GRCm39) |
nonsense |
probably null |
|
|
R7049:Adam6b
|
UTSW |
12 |
113,454,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7313:Adam6b
|
UTSW |
12 |
113,454,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Adam6b
|
UTSW |
12 |
113,453,784 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7684:Adam6b
|
UTSW |
12 |
113,455,196 (GRCm39) |
nonsense |
probably null |
|
|
R7777:Adam6b
|
UTSW |
12 |
113,453,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7781:Adam6b
|
UTSW |
12 |
113,454,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Adam6b
|
UTSW |
12 |
113,454,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8196:Adam6b
|
UTSW |
12 |
113,454,087 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8423:Adam6b
|
UTSW |
12 |
113,454,530 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8680:Adam6b
|
UTSW |
12 |
113,454,371 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8762:Adam6b
|
UTSW |
12 |
113,453,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8792:Adam6b
|
UTSW |
12 |
113,455,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8806:Adam6b
|
UTSW |
12 |
113,455,418 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8880:Adam6b
|
UTSW |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
|
|
R8977:Adam6b
|
UTSW |
12 |
113,453,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8987:Adam6b
|
UTSW |
12 |
113,454,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Adam6b
|
UTSW |
12 |
113,455,376 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9103:Adam6b
|
UTSW |
12 |
113,454,558 (GRCm39) |
nonsense |
probably null |
|
|
R9334:Adam6b
|
UTSW |
12 |
113,454,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
|
R9683:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
|
R9796:Adam6b
|
UTSW |
12 |
113,454,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Adam6b
|
UTSW |
12 |
113,453,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Adam6b
|
UTSW |
12 |
113,455,289 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
T0722:Adam6b
|
UTSW |
12 |
113,454,888 (GRCm39) |
missense |
probably benign |
0.11 |
|
T0722:Adam6b
|
UTSW |
12 |
113,453,197 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCTGAGAGGAGTATATGTTC -3'
(R):5'- CCCAGAAGGACTGTAAGTGC -3'
Sequencing Primer
(F):5'- GAGGAGTATATGTTCTTCCTTAGCCC -3'
(R):5'- AGGACTGTAAGTGCAATTTGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation