Incidental Mutation 'R6433:Skint4'
ID |
518630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint4
|
Ensembl Gene |
ENSMUSG00000055960 |
Gene Name |
selection and upkeep of intraepithelial T cells 4 |
Synonyms |
9530098N22Rik |
MMRRC Submission |
044571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6433 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112003707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 380
(K380R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
AlphaFold |
A7TZF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069769
AA Change: K372R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000070676 Gene: ENSMUSG00000055960 AA Change: K372R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
33 |
140 |
7.24e-10 |
SMART |
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106564
AA Change: K372R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102174 Gene: ENSMUSG00000055960 AA Change: K372R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
33 |
140 |
7.24e-10 |
SMART |
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106565
AA Change: K372R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102175 Gene: ENSMUSG00000055960 AA Change: K372R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
33 |
140 |
7.24e-10 |
SMART |
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106566
AA Change: K380R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102176 Gene: ENSMUSG00000055960 AA Change: K380R
Domain | Start | End | E-Value | Type |
IG
|
41 |
148 |
7.24e-10 |
SMART |
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
transmembrane domain
|
304 |
326 |
N/A |
INTRINSIC |
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121737
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,392,395 (GRCm39) |
T544A |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
Flcn |
T |
C |
11: 59,691,908 (GRCm39) |
D247G |
probably damaging |
Het |
Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
H2-Ob |
A |
T |
17: 34,462,860 (GRCm39) |
|
probably null |
Het |
Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
Pex5 |
A |
T |
6: 124,390,572 (GRCm39) |
M91K |
possibly damaging |
Het |
Phlpp2 |
G |
T |
8: 110,661,317 (GRCm39) |
A810S |
probably benign |
Het |
Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
Sh3tc1 |
T |
C |
5: 35,863,941 (GRCm39) |
R749G |
probably damaging |
Het |
Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
probably benign |
Het |
|
Other mutations in Skint4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:Skint4
|
APN |
4 |
111,977,207 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01654:Skint4
|
APN |
4 |
111,977,254 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02040:Skint4
|
APN |
4 |
112,003,679 (GRCm39) |
splice site |
probably benign |
|
IGL02328:Skint4
|
APN |
4 |
111,977,255 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02811:Skint4
|
APN |
4 |
111,944,200 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02965:Skint4
|
APN |
4 |
111,993,218 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03039:Skint4
|
APN |
4 |
111,981,847 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03060:Skint4
|
APN |
4 |
111,975,432 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03075:Skint4
|
APN |
4 |
111,944,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Skint4
|
APN |
4 |
112,022,883 (GRCm39) |
missense |
possibly damaging |
0.96 |
PIT4378001:Skint4
|
UTSW |
4 |
111,944,232 (GRCm39) |
missense |
probably benign |
0.01 |
R0483:Skint4
|
UTSW |
4 |
111,975,136 (GRCm39) |
splice site |
probably benign |
|
R1175:Skint4
|
UTSW |
4 |
111,981,793 (GRCm39) |
missense |
probably benign |
0.14 |
R1446:Skint4
|
UTSW |
4 |
111,975,311 (GRCm39) |
missense |
probably benign |
0.11 |
R1641:Skint4
|
UTSW |
4 |
111,993,240 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1983:Skint4
|
UTSW |
4 |
112,003,689 (GRCm39) |
missense |
probably benign |
0.00 |
R2168:Skint4
|
UTSW |
4 |
111,944,183 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2272:Skint4
|
UTSW |
4 |
111,977,065 (GRCm39) |
missense |
probably benign |
0.01 |
R2287:Skint4
|
UTSW |
4 |
111,975,402 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3801:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R3802:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R3804:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R4009:Skint4
|
UTSW |
4 |
111,977,306 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4050:Skint4
|
UTSW |
4 |
111,981,811 (GRCm39) |
missense |
probably benign |
0.01 |
R4564:Skint4
|
UTSW |
4 |
111,977,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R4581:Skint4
|
UTSW |
4 |
111,944,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R4587:Skint4
|
UTSW |
4 |
111,944,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R4674:Skint4
|
UTSW |
4 |
111,975,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Skint4
|
UTSW |
4 |
111,975,433 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4753:Skint4
|
UTSW |
4 |
112,003,728 (GRCm39) |
missense |
probably benign |
0.00 |
R4775:Skint4
|
UTSW |
4 |
111,993,261 (GRCm39) |
missense |
probably damaging |
0.97 |
R4832:Skint4
|
UTSW |
4 |
112,000,963 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5299:Skint4
|
UTSW |
4 |
111,993,203 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6118:Skint4
|
UTSW |
4 |
111,977,019 (GRCm39) |
splice site |
probably null |
|
R6616:Skint4
|
UTSW |
4 |
111,975,427 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6698:Skint4
|
UTSW |
4 |
111,977,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Skint4
|
UTSW |
4 |
111,977,060 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7034:Skint4
|
UTSW |
4 |
112,015,281 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7102:Skint4
|
UTSW |
4 |
111,975,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Skint4
|
UTSW |
4 |
111,975,468 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8027:Skint4
|
UTSW |
4 |
112,015,182 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8038:Skint4
|
UTSW |
4 |
111,977,003 (GRCm39) |
intron |
probably benign |
|
R8147:Skint4
|
UTSW |
4 |
111,993,218 (GRCm39) |
missense |
probably benign |
0.06 |
R8375:Skint4
|
UTSW |
4 |
111,975,173 (GRCm39) |
missense |
probably damaging |
0.98 |
R8682:Skint4
|
UTSW |
4 |
111,993,237 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8695:Skint4
|
UTSW |
4 |
111,975,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Skint4
|
UTSW |
4 |
112,022,932 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9361:Skint4
|
UTSW |
4 |
112,001,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R9516:Skint4
|
UTSW |
4 |
112,015,236 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCTCTGATTTTGTGCTG -3'
(R):5'- CAATTCCAGAGACAAGCATTTAGG -3'
Sequencing Primer
(F):5'- CTTCTCTTAGTTTTGCAAATCGAGG -3'
(R):5'- CGTAATTGCAGATGCACAAG -3'
|
Posted On |
2018-05-24 |