Incidental Mutation 'R8437:Anks6'
| ID |
654032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks6
|
| Ensembl Gene |
ENSMUSG00000066191 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 6 |
| Synonyms |
b2b1801.1Clo, LOC269533, 2210417J20Rik, SamCystin, Samd6 |
| MMRRC Submission |
067901-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47015669-47057427 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47030705 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 631
(S631G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084616]
[ENSMUST00000107747]
[ENSMUST00000229609]
|
| AlphaFold |
Q6GQX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084616
AA Change: S631G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: S631G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
8 |
37 |
2.39e2 |
SMART |
|
ANK
|
68 |
97 |
5.62e-4 |
SMART |
|
ANK
|
101 |
130 |
2.05e-6 |
SMART |
|
ANK
|
134 |
163 |
1.9e-1 |
SMART |
|
ANK
|
181 |
210 |
8.99e-3 |
SMART |
|
ANK
|
215 |
244 |
7.83e-3 |
SMART |
|
ANK
|
282 |
312 |
5.87e2 |
SMART |
|
ANK
|
316 |
345 |
1.22e-4 |
SMART |
|
ANK
|
350 |
379 |
3.57e-6 |
SMART |
|
ANK
|
383 |
414 |
1.23e3 |
SMART |
|
low complexity region
|
539 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
673 |
N/A |
INTRINSIC |
|
SAM
|
700 |
766 |
2.73e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107747
AA Change: S699G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: S699G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
8 |
37 |
2.39e2 |
SMART |
|
ANK
|
68 |
97 |
5.62e-4 |
SMART |
|
ANK
|
101 |
130 |
2.05e-6 |
SMART |
|
ANK
|
134 |
163 |
1.9e-1 |
SMART |
|
ANK
|
181 |
210 |
8.99e-3 |
SMART |
|
ANK
|
215 |
244 |
7.83e-3 |
SMART |
|
ANK
|
282 |
312 |
5.87e2 |
SMART |
|
ANK
|
316 |
345 |
1.22e-4 |
SMART |
|
ANK
|
350 |
379 |
3.57e-6 |
SMART |
|
ANK
|
383 |
414 |
1.23e3 |
SMART |
|
low complexity region
|
607 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
768 |
N/A |
INTRINSIC |
|
Blast:SAM
|
769 |
796 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229609
AA Change: S699G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 79,348,430 (GRCm38) |
Y237H |
probably damaging |
Het |
| Adprh |
T |
C |
16: 38,446,087 (GRCm38) |
E231G |
probably benign |
Het |
| Bpifa5 |
T |
A |
2: 154,165,606 (GRCm38) |
L156H |
probably damaging |
Het |
| Bsn |
G |
A |
9: 108,111,452 (GRCm38) |
A2367V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,786,843 (GRCm38) |
Y236H |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,547,145 (GRCm38) |
G508S |
probably damaging |
Het |
| Clca1 |
T |
C |
3: 145,005,061 (GRCm38) |
T794A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,319,464 (GRCm38) |
|
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 96,099,662 (GRCm38) |
C497Y |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 78,052,768 (GRCm38) |
I168T |
possibly damaging |
Het |
| Dtna |
C |
T |
18: 23,590,341 (GRCm38) |
Q201* |
probably null |
Het |
| Fetub |
T |
C |
16: 22,934,235 (GRCm38) |
S146P |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,609,406 (GRCm38) |
E242D |
probably benign |
Het |
| Gfpt2 |
T |
A |
11: 49,804,867 (GRCm38) |
|
probably benign |
Het |
| Ginm1 |
C |
T |
10: 7,770,366 (GRCm38) |
C290Y |
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,384,710 (GRCm38) |
S386P |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,391,076 (GRCm38) |
L1867I |
probably benign |
Het |
| Hnrnpa3 |
T |
G |
2: 75,662,675 (GRCm38) |
S220A |
unknown |
Het |
| Hydin |
A |
G |
8: 110,462,735 (GRCm38) |
E1257G |
probably damaging |
Het |
| Ier3ip1 |
C |
T |
18: 76,930,178 (GRCm38) |
A18V |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,094,677 (GRCm38) |
C1361S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,652,143 (GRCm38) |
Q955R |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,107,303 (GRCm38) |
M1349R |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,926,234 (GRCm38) |
V316I |
probably benign |
Het |
| March6 |
A |
G |
15: 31,482,549 (GRCm38) |
I501T |
possibly damaging |
Het |
| Msl2 |
T |
A |
9: 101,100,968 (GRCm38) |
S180R |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,657,924 (GRCm38) |
V1100I |
unknown |
Het |
| Nbas |
T |
C |
12: 13,566,250 (GRCm38) |
V2263A |
possibly damaging |
Het |
| Olfr1416 |
C |
T |
1: 92,480,465 (GRCm38) |
S52N |
probably benign |
Het |
| Olfr853 |
C |
T |
9: 19,537,537 (GRCm38) |
R131H |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,514,886 (GRCm38) |
I130L |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,628,950 (GRCm38) |
T640A |
probably damaging |
Het |
| Pole2 |
G |
C |
12: 69,204,187 (GRCm38) |
Y467* |
probably null |
Het |
| Pxdn |
C |
T |
12: 30,002,044 (GRCm38) |
T740M |
probably damaging |
Het |
| Rabac1 |
T |
C |
7: 24,972,247 (GRCm38) |
I83V |
probably damaging |
Het |
| Rrp7a |
T |
C |
15: 83,117,572 (GRCm38) |
Q245R |
probably damaging |
Het |
| Sae1 |
A |
G |
7: 16,370,354 (GRCm38) |
V110A |
probably damaging |
Het |
| Sema3c |
G |
T |
5: 17,662,938 (GRCm38) |
V116F |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,265,704 (GRCm38) |
Y200C |
probably damaging |
Het |
| Slc25a45 |
C |
T |
19: 5,880,107 (GRCm38) |
T35M |
probably benign |
Het |
| Speer4b |
C |
T |
5: 27,498,820 (GRCm38) |
R107Q |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,364,858 (GRCm38) |
T843A |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,332,560 (GRCm38) |
I2004F |
probably damaging |
Het |
| Tma16 |
T |
C |
8: 66,476,796 (GRCm38) |
D182G |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,781,362 (GRCm38) |
Y1167* |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,260,141 (GRCm38) |
|
probably benign |
Het |
| Usp25 |
A |
G |
16: 77,033,912 (GRCm38) |
T19A |
probably damaging |
Het |
| Vpreb2 |
G |
A |
16: 17,980,889 (GRCm38) |
G80S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 33,076,375 (GRCm38) |
C2025R |
|
Het |
| Zyg11a |
T |
A |
4: 108,217,906 (GRCm38) |
H6L |
probably damaging |
Het |
|
| Other mutations in Anks6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Anks6
|
APN |
4 |
47,046,054 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01886:Anks6
|
APN |
4 |
47,044,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02903:Anks6
|
APN |
4 |
47,045,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Anks6
|
UTSW |
4 |
47,027,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0632:Anks6
|
UTSW |
4 |
47,033,167 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1220:Anks6
|
UTSW |
4 |
47,025,767 (GRCm38) |
splice site |
probably benign |
|
|
R1398:Anks6
|
UTSW |
4 |
47,044,926 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1479:Anks6
|
UTSW |
4 |
47,044,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1519:Anks6
|
UTSW |
4 |
47,027,152 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1713:Anks6
|
UTSW |
4 |
47,039,726 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1781:Anks6
|
UTSW |
4 |
47,043,639 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1853:Anks6
|
UTSW |
4 |
47,049,387 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2364:Anks6
|
UTSW |
4 |
47,027,248 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3790:Anks6
|
UTSW |
4 |
47,049,212 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4432:Anks6
|
UTSW |
4 |
47,044,905 (GRCm38) |
nonsense |
probably null |
|
|
R4700:Anks6
|
UTSW |
4 |
47,033,127 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4847:Anks6
|
UTSW |
4 |
47,033,266 (GRCm38) |
missense |
probably benign |
|
|
R4876:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4877:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4878:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4879:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4961:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4962:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4968:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4970:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4971:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5092:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5113:Anks6
|
UTSW |
4 |
47,030,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5389:Anks6
|
UTSW |
4 |
47,038,900 (GRCm38) |
splice site |
probably benign |
|
|
R5569:Anks6
|
UTSW |
4 |
47,045,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5857:Anks6
|
UTSW |
4 |
47,039,736 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5977:Anks6
|
UTSW |
4 |
47,035,748 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5978:Anks6
|
UTSW |
4 |
47,049,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6933:Anks6
|
UTSW |
4 |
47,049,164 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7175:Anks6
|
UTSW |
4 |
47,046,268 (GRCm38) |
splice site |
probably null |
|
|
R7454:Anks6
|
UTSW |
4 |
47,038,919 (GRCm38) |
missense |
unknown |
|
|
R7874:Anks6
|
UTSW |
4 |
47,049,275 (GRCm38) |
missense |
unknown |
|
|
R8146:Anks6
|
UTSW |
4 |
47,043,605 (GRCm38) |
missense |
unknown |
|
|
R9454:Anks6
|
UTSW |
4 |
47,016,789 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9462:Anks6
|
UTSW |
4 |
47,033,142 (GRCm38) |
missense |
unknown |
|
|
R9567:Anks6
|
UTSW |
4 |
47,044,880 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGACCTCTGCAGGAAG -3'
(R):5'- GGCCCTTGTGTAGAACTCTTAC -3'
Sequencing Primer
(F):5'- TCAGACCTCTGCAGGAAGTTCAG -3'
(R):5'- GTGTAGAACTCTTACAAGCCTGAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation