Incidental Mutation 'R7742:Dnai4'
| ID |
596597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai4
|
| Ensembl Gene |
ENSMUSG00000035126 |
| Gene Name |
dynein axonemal intermediate chain 4 |
| Synonyms |
Wdr78 |
| MMRRC Submission |
045798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R7742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102947630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 215
(M215I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036451]
[ENSMUST00000036557]
[ENSMUST00000106868]
[ENSMUST00000116316]
|
| AlphaFold |
E9PYY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036451
AA Change: M215I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: M215I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
423 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
447 |
466 |
2.11e-5 |
PROSPERO |
|
WD40
|
485 |
524 |
1.85e-3 |
SMART |
|
WD40
|
534 |
581 |
5.7e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036557
|
| SMART Domains |
Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
100 |
N/A |
INTRINSIC |
|
WD40
|
133 |
172 |
9.24e-4 |
SMART |
|
WD40
|
182 |
229 |
5.7e1 |
SMART |
|
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
|
Blast:WD40
|
262 |
296 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106868
AA Change: M215I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: M215I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
423 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
447 |
466 |
8.61e-5 |
PROSPERO |
|
WD40
|
485 |
524 |
1.85e-3 |
SMART |
|
WD40
|
534 |
581 |
5.7e1 |
SMART |
|
low complexity region
|
601 |
613 |
N/A |
INTRINSIC |
|
Blast:WD40
|
614 |
648 |
3e-12 |
BLAST |
|
WD40
|
652 |
692 |
2.38e-6 |
SMART |
|
WD40
|
695 |
734 |
1.48e-2 |
SMART |
|
WD40
|
739 |
779 |
6.14e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116316
AA Change: M215I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: M215I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
423 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
447 |
466 |
2.11e-5 |
PROSPERO |
|
WD40
|
485 |
524 |
1.85e-3 |
SMART |
|
WD40
|
534 |
581 |
5.7e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148673
|
| Meta Mutation Damage Score |
0.1602 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,714 (GRCm39) |
K417R |
possibly damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,542,064 (GRCm39) |
I886N |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,133,928 (GRCm39) |
T417A |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,538 (GRCm39) |
M1V |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,384,161 (GRCm39) |
H1155R |
unknown |
Het |
| Csad |
A |
G |
15: 102,095,599 (GRCm39) |
S153P |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dmtf1 |
C |
T |
5: 9,172,457 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,809,073 (GRCm39) |
I1055T |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,076,232 (GRCm39) |
D2975G |
probably benign |
Het |
| Eif1ad7 |
A |
T |
12: 88,238,476 (GRCm39) |
Y95N |
probably damaging |
Het |
| F5 |
G |
T |
1: 164,035,453 (GRCm39) |
V1876F |
possibly damaging |
Het |
| Fam81b |
T |
A |
13: 76,399,809 (GRCm39) |
I150F |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,877,684 (GRCm39) |
V252E |
probably damaging |
Het |
| Fbln1 |
A |
G |
15: 85,124,917 (GRCm39) |
D475G |
probably damaging |
Het |
| Fshr |
T |
A |
17: 89,293,590 (GRCm39) |
I363F |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,568,635 (GRCm39) |
L1328P |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,547,659 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
C |
A |
1: 173,470,198 (GRCm39) |
T262K |
probably damaging |
Het |
| Kif2b |
T |
A |
11: 91,467,411 (GRCm39) |
I291F |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 40,712,641 (GRCm39) |
D3231V |
|
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,268,754 (GRCm39) |
K209E |
probably benign |
Het |
| Nup98 |
C |
T |
7: 101,802,464 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,904,193 (GRCm39) |
D361G |
possibly damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,829 (GRCm39) |
Q65R |
probably damaging |
Het |
| Or2j6 |
T |
A |
7: 139,980,234 (GRCm39) |
I242F |
probably benign |
Het |
| Pign |
T |
C |
1: 105,480,122 (GRCm39) |
I851V |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,204 (GRCm39) |
L19Q |
unknown |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prkcg |
T |
C |
7: 3,378,459 (GRCm39) |
I627T |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,791,031 (GRCm39) |
M18K |
probably benign |
Het |
| Ptpn3 |
T |
A |
4: 57,265,092 (GRCm39) |
|
probably null |
Het |
| Rp1 |
A |
T |
1: 4,240,457 (GRCm39) |
F899I |
unknown |
Het |
| Sis |
T |
A |
3: 72,832,431 (GRCm39) |
Y1026F |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,127,194 (GRCm39) |
V879G |
probably damaging |
Het |
| Specc1l |
T |
C |
10: 75,082,251 (GRCm39) |
I549T |
probably benign |
Het |
| Spmip11 |
T |
A |
15: 98,483,250 (GRCm39) |
V60E |
probably damaging |
Het |
| Sprr2a3 |
G |
A |
3: 92,196,066 (GRCm39) |
V58M |
unknown |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,106,209 (GRCm39) |
H785Y |
probably benign |
Het |
| Tat |
T |
A |
8: 110,718,242 (GRCm39) |
N42K |
probably benign |
Het |
| Tmem184a |
C |
T |
5: 139,792,744 (GRCm39) |
A271T |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,451,493 (GRCm39) |
I411V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,733,872 (GRCm39) |
I4468V |
unknown |
Het |
| Vcam1 |
T |
C |
3: 115,909,734 (GRCm39) |
N531S |
possibly damaging |
Het |
| Vmn1r257 |
C |
T |
7: 22,391,343 (GRCm39) |
V134I |
probably benign |
Het |
| Xcl1 |
T |
C |
1: 164,763,041 (GRCm39) |
T7A |
unknown |
Het |
| Zc3h11a |
A |
G |
1: 133,565,173 (GRCm39) |
V242A |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,971,025 (GRCm39) |
Y335N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,731 (GRCm39) |
I675V |
unknown |
Het |
|
| Other mutations in Dnai4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Dnai4
|
APN |
4 |
102,960,439 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01508:Dnai4
|
APN |
4 |
102,929,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01509:Dnai4
|
APN |
4 |
102,929,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01511:Dnai4
|
APN |
4 |
102,905,558 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01693:Dnai4
|
APN |
4 |
102,944,527 (GRCm39) |
splice site |
probably null |
|
|
IGL01731:Dnai4
|
APN |
4 |
102,919,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02033:Dnai4
|
APN |
4 |
102,923,490 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02100:Dnai4
|
APN |
4 |
102,907,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Dnai4
|
APN |
4 |
102,953,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Dnai4
|
APN |
4 |
102,947,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02476:Dnai4
|
APN |
4 |
102,944,545 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02929:Dnai4
|
APN |
4 |
102,917,188 (GRCm39) |
nonsense |
probably null |
|
|
R0070:Dnai4
|
UTSW |
4 |
102,917,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Dnai4
|
UTSW |
4 |
102,905,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Dnai4
|
UTSW |
4 |
102,960,450 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0518:Dnai4
|
UTSW |
4 |
102,921,727 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Dnai4
|
UTSW |
4 |
102,953,815 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0624:Dnai4
|
UTSW |
4 |
102,930,054 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Dnai4
|
UTSW |
4 |
102,906,583 (GRCm39) |
intron |
probably benign |
|
|
R1463:Dnai4
|
UTSW |
4 |
102,944,615 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1818:Dnai4
|
UTSW |
4 |
102,929,854 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2073:Dnai4
|
UTSW |
4 |
102,907,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Dnai4
|
UTSW |
4 |
102,907,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Dnai4
|
UTSW |
4 |
102,923,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2851:Dnai4
|
UTSW |
4 |
102,953,858 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2852:Dnai4
|
UTSW |
4 |
102,953,858 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2853:Dnai4
|
UTSW |
4 |
102,907,355 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4491:Dnai4
|
UTSW |
4 |
102,923,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4792:Dnai4
|
UTSW |
4 |
102,929,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5223:Dnai4
|
UTSW |
4 |
102,906,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5290:Dnai4
|
UTSW |
4 |
102,906,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5465:Dnai4
|
UTSW |
4 |
102,906,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Dnai4
|
UTSW |
4 |
102,906,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6239:Dnai4
|
UTSW |
4 |
102,923,640 (GRCm39) |
missense |
probably benign |
|
|
R6304:Dnai4
|
UTSW |
4 |
102,944,553 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6456:Dnai4
|
UTSW |
4 |
102,906,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Dnai4
|
UTSW |
4 |
102,906,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Dnai4
|
UTSW |
4 |
102,905,523 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7161:Dnai4
|
UTSW |
4 |
102,953,813 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7198:Dnai4
|
UTSW |
4 |
102,919,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7208:Dnai4
|
UTSW |
4 |
102,923,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7320:Dnai4
|
UTSW |
4 |
102,907,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7939:Dnai4
|
UTSW |
4 |
102,953,798 (GRCm39) |
nonsense |
probably null |
|
|
R8120:Dnai4
|
UTSW |
4 |
102,923,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Dnai4
|
UTSW |
4 |
102,917,113 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8453:Dnai4
|
UTSW |
4 |
102,917,113 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8813:Dnai4
|
UTSW |
4 |
102,947,697 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8870:Dnai4
|
UTSW |
4 |
102,944,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8909:Dnai4
|
UTSW |
4 |
102,944,607 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8957:Dnai4
|
UTSW |
4 |
102,953,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Dnai4
|
UTSW |
4 |
102,905,499 (GRCm39) |
nonsense |
probably null |
|
|
R9060:Dnai4
|
UTSW |
4 |
102,947,750 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9132:Dnai4
|
UTSW |
4 |
102,916,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Dnai4
|
UTSW |
4 |
102,906,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9188:Dnai4
|
UTSW |
4 |
102,939,332 (GRCm39) |
missense |
|
|
|
R9426:Dnai4
|
UTSW |
4 |
102,906,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Dnai4
|
UTSW |
4 |
102,929,968 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACACAGGCTATGCTAAAGATAAGGG -3'
(R):5'- TTTAGGACTAGGAGGCGTGC -3'
Sequencing Primer
(F):5'- GCTATGCTAAAGATAAGGGCTTTTCC -3'
(R):5'- AGGCAGCCATATCAAAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation