Incidental Mutation 'R4450:Nsun4'
| ID |
328914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsun4
|
| Ensembl Gene |
ENSMUSG00000028706 |
| Gene Name |
NOL1/NOP2/Sun domain family, member 4 |
| Synonyms |
2810405F18Rik, 2310010O12Rik |
| MMRRC Submission |
041711-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R4450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115890202-115911076 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 115908453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 702
(Y702*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030474]
[ENSMUST00000030475]
[ENSMUST00000165493]
|
| AlphaFold |
C4P6S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030474
|
| SMART Domains |
Protein: ENSMUSP00000030474
Gene: ENSMUSG00000028706
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nol1_Nop2_Fmu
|
28 |
199 |
3.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030475
|
| SMART Domains |
Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
Pfam:Nol1_Nop2_Fmu
|
163 |
356 |
9.7e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152712
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165493
AA Change: Y702*
|
| SMART Domains |
Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706
AA Change: Y702*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
756 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl6 |
A |
G |
11: 54,219,229 (GRCm39) |
D278G |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,568 (GRCm39) |
R196Q |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Angel1 |
A |
T |
12: 86,768,698 (GRCm39) |
Y262N |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,487,097 (GRCm39) |
E272G |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,459,518 (GRCm39) |
D264E |
probably damaging |
Het |
| Cdca4 |
T |
C |
12: 112,785,278 (GRCm39) |
N150S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,861 (GRCm39) |
S510G |
probably damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,398 (GRCm39) |
T10A |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,531,807 (GRCm39) |
G631D |
possibly damaging |
Het |
| Col19a1 |
T |
A |
1: 24,361,116 (GRCm39) |
T625S |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,781,720 (GRCm39) |
G1635D |
unknown |
Het |
| Dcp1b |
A |
G |
6: 119,183,437 (GRCm39) |
T175A |
probably benign |
Het |
| Eln |
C |
T |
5: 134,754,635 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm9894 |
T |
A |
13: 67,913,199 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 146,993,169 (GRCm39) |
G47D |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lzts2 |
A |
T |
19: 45,012,032 (GRCm39) |
K154* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,911,411 (GRCm39) |
|
probably null |
Het |
| Mlc1 |
A |
G |
15: 88,847,693 (GRCm39) |
F285S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,074,458 (GRCm39) |
M789K |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,306,933 (GRCm39) |
S319T |
probably damaging |
Het |
| Or8b52 |
A |
T |
9: 38,577,050 (GRCm39) |
V30E |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,328 (GRCm39) |
M200I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,248,643 (GRCm39) |
T640S |
probably benign |
Het |
| Plaat1 |
C |
T |
16: 29,046,976 (GRCm39) |
T165M |
possibly damaging |
Het |
| Rangrf |
A |
T |
11: 68,866,010 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,954,038 (GRCm39) |
G1867D |
probably damaging |
Het |
| Slc11a1 |
C |
A |
1: 74,424,694 (GRCm39) |
|
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,492,961 (GRCm39) |
H156R |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,251,347 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
C |
11: 58,542,191 (GRCm39) |
W384R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
|
| Other mutations in Nsun4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Nsun4
|
UTSW |
4 |
115,901,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Nsun4
|
UTSW |
4 |
115,901,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Nsun4
|
UTSW |
4 |
115,892,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0306:Nsun4
|
UTSW |
4 |
115,910,019 (GRCm39) |
nonsense |
probably null |
|
|
R0365:Nsun4
|
UTSW |
4 |
115,901,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Nsun4
|
UTSW |
4 |
115,910,147 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1624:Nsun4
|
UTSW |
4 |
115,891,397 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2058:Nsun4
|
UTSW |
4 |
115,910,877 (GRCm39) |
splice site |
probably null |
|
|
R2262:Nsun4
|
UTSW |
4 |
115,910,147 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2438:Nsun4
|
UTSW |
4 |
115,905,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3029:Nsun4
|
UTSW |
4 |
115,909,922 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4012:Nsun4
|
UTSW |
4 |
115,908,259 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4162:Nsun4
|
UTSW |
4 |
115,891,391 (GRCm39) |
nonsense |
probably null |
|
|
R4166:Nsun4
|
UTSW |
4 |
115,891,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4277:Nsun4
|
UTSW |
4 |
115,891,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Nsun4
|
UTSW |
4 |
115,897,327 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5077:Nsun4
|
UTSW |
4 |
115,905,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5307:Nsun4
|
UTSW |
4 |
115,891,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5509:Nsun4
|
UTSW |
4 |
115,908,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5510:Nsun4
|
UTSW |
4 |
115,908,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6145:Nsun4
|
UTSW |
4 |
115,897,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Nsun4
|
UTSW |
4 |
115,901,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Nsun4
|
UTSW |
4 |
115,910,131 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7346:Nsun4
|
UTSW |
4 |
115,909,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7528:Nsun4
|
UTSW |
4 |
115,891,391 (GRCm39) |
nonsense |
probably null |
|
|
R7560:Nsun4
|
UTSW |
4 |
115,908,691 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7719:Nsun4
|
UTSW |
4 |
115,909,617 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7798:Nsun4
|
UTSW |
4 |
115,908,371 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7868:Nsun4
|
UTSW |
4 |
115,891,329 (GRCm39) |
missense |
probably benign |
|
|
R7932:Nsun4
|
UTSW |
4 |
115,901,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Nsun4
|
UTSW |
4 |
115,908,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8109:Nsun4
|
UTSW |
4 |
115,909,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9006:Nsun4
|
UTSW |
4 |
115,897,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Nsun4
|
UTSW |
4 |
115,902,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Nsun4
|
UTSW |
4 |
115,891,473 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9592:Nsun4
|
UTSW |
4 |
115,908,852 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACCCATGTTGGTACTCTC -3'
(R):5'- TTGAGAACACCCTTTGACCCC -3'
Sequencing Primer
(F):5'- GGTACTCTCATTACGGTCCTGAG -3'
(R):5'- GATGTTTACCTGTTGTCCCTCGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation