Incidental Mutation 'R6528:Cmtm1'
ID |
522082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmtm1
|
Ensembl Gene |
ENSMUSG00000110430 |
Gene Name |
CKLF-like MARVEL transmembrane domain containing 1 |
Synonyms |
CKLFH1, CHLFH1a, Cklfsf1 |
MMRRC Submission |
044654-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R6528 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105020174-105036777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105035927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 190
(D190G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159039]
[ENSMUST00000160596]
[ENSMUST00000162616]
[ENSMUST00000164175]
|
AlphaFold |
B7ZP21 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159039
|
SMART Domains |
Protein: ENSMUSP00000124855 Gene: ENSMUSG00000110430
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
33 |
70 |
7.45e-12 |
PROSPERO |
internal_repeat_2
|
34 |
74 |
9.92e-7 |
PROSPERO |
internal_repeat_1
|
66 |
103 |
7.45e-12 |
PROSPERO |
internal_repeat_2
|
122 |
162 |
9.92e-7 |
PROSPERO |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160596
AA Change: D234G
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124656 Gene: ENSMUSG00000110430 AA Change: D234G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
33 |
70 |
1.42e-11 |
PROSPERO |
internal_repeat_2
|
34 |
74 |
1.79e-6 |
PROSPERO |
internal_repeat_1
|
66 |
103 |
1.42e-11 |
PROSPERO |
internal_repeat_2
|
122 |
162 |
1.79e-6 |
PROSPERO |
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162616
AA Change: D234G
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124800 Gene: ENSMUSG00000031876 AA Change: D234G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
33 |
70 |
1.42e-11 |
PROSPERO |
internal_repeat_2
|
34 |
74 |
1.79e-6 |
PROSPERO |
internal_repeat_1
|
66 |
103 |
1.42e-11 |
PROSPERO |
internal_repeat_2
|
122 |
162 |
1.79e-6 |
PROSPERO |
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164175
AA Change: D190G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132828 Gene: ENSMUSG00000110430 AA Change: D190G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
34 |
71 |
1.23e-5 |
PROSPERO |
internal_repeat_1
|
100 |
137 |
1.23e-5 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212847
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
C |
T |
8: 56,325,596 (GRCm39) |
R286H |
possibly damaging |
Het |
Arhgap29 |
T |
A |
3: 121,808,351 (GRCm39) |
N1176K |
probably benign |
Het |
Cacfd1 |
T |
G |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
Ccnj |
C |
A |
19: 40,820,529 (GRCm39) |
|
probably null |
Het |
Chad |
A |
G |
11: 94,456,450 (GRCm39) |
Y176C |
probably damaging |
Het |
Chd5 |
T |
C |
4: 152,441,133 (GRCm39) |
L191P |
probably damaging |
Het |
Cyp3a16 |
C |
T |
5: 145,377,241 (GRCm39) |
A449T |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,790,896 (GRCm39) |
E1334G |
probably benign |
Het |
Endou |
C |
T |
15: 97,617,510 (GRCm39) |
E147K |
probably damaging |
Het |
Fbxo21 |
C |
A |
5: 118,138,421 (GRCm39) |
H449N |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,250,507 (GRCm39) |
I363T |
probably damaging |
Het |
Gm12887 |
C |
A |
4: 121,472,834 (GRCm39) |
G103C |
probably damaging |
Het |
Gm14410 |
T |
A |
2: 176,885,301 (GRCm39) |
H321L |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Irgm2 |
C |
T |
11: 58,110,878 (GRCm39) |
P202S |
probably benign |
Het |
Khsrp |
G |
A |
17: 57,330,543 (GRCm39) |
T551I |
probably damaging |
Het |
Lpin2 |
T |
A |
17: 71,551,000 (GRCm39) |
I720N |
probably damaging |
Het |
Lypd8 |
G |
A |
11: 58,275,439 (GRCm39) |
G58E |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,713,780 (GRCm39) |
L1952F |
probably damaging |
Het |
Med13 |
G |
A |
11: 86,189,780 (GRCm39) |
P1043L |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,380,317 (GRCm39) |
T3832A |
probably damaging |
Het |
Nrxn3 |
C |
T |
12: 89,479,819 (GRCm39) |
R654C |
probably damaging |
Het |
Or10a3m |
T |
C |
7: 108,312,638 (GRCm39) |
L14P |
probably damaging |
Het |
Or12j3 |
G |
T |
7: 139,953,354 (GRCm39) |
H56Q |
possibly damaging |
Het |
Or13a22 |
A |
G |
7: 140,072,964 (GRCm39) |
M138V |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,809 (GRCm39) |
D121G |
probably damaging |
Het |
Pcdhb6 |
A |
G |
18: 37,467,556 (GRCm39) |
D159G |
probably damaging |
Het |
Plec |
T |
C |
15: 76,058,630 (GRCm39) |
E3759G |
probably damaging |
Het |
Plekho1 |
C |
T |
3: 95,896,633 (GRCm39) |
D236N |
probably damaging |
Het |
Pnma1 |
T |
A |
12: 84,194,197 (GRCm39) |
I169F |
probably benign |
Het |
Ppl |
T |
A |
16: 4,905,480 (GRCm39) |
H1605L |
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 42,821,403 (GRCm39) |
M252L |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,935,381 (GRCm39) |
V120A |
probably damaging |
Het |
Prickle4 |
T |
A |
17: 48,000,258 (GRCm39) |
R246* |
probably null |
Het |
Rad50 |
G |
A |
11: 53,543,109 (GRCm39) |
T1235I |
probably damaging |
Het |
Ranbp10 |
T |
C |
8: 106,506,588 (GRCm39) |
N244S |
probably damaging |
Het |
Robo4 |
T |
C |
9: 37,315,664 (GRCm39) |
S306P |
possibly damaging |
Het |
Shox2 |
C |
A |
3: 66,888,618 (GRCm39) |
R91L |
probably benign |
Het |
Tbx5 |
A |
G |
5: 120,021,176 (GRCm39) |
E394G |
probably damaging |
Het |
Tcl1b5 |
A |
G |
12: 105,145,258 (GRCm39) |
N74S |
probably benign |
Het |
Tgif1 |
G |
A |
17: 71,153,555 (GRCm39) |
|
probably benign |
Het |
Tmem128 |
T |
A |
5: 38,423,843 (GRCm39) |
|
probably null |
Het |
Trio |
A |
G |
15: 27,805,956 (GRCm39) |
S511P |
probably damaging |
Het |
Trps1 |
A |
G |
15: 50,685,823 (GRCm39) |
I114T |
probably benign |
Het |
Ttll8 |
G |
T |
15: 88,798,441 (GRCm39) |
Q765K |
probably benign |
Het |
Usp17ld |
A |
T |
7: 102,899,962 (GRCm39) |
D323E |
probably damaging |
Het |
Vmn1r232 |
G |
A |
17: 21,134,309 (GRCm39) |
T97I |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,493,684 (GRCm39) |
R87S |
probably benign |
Het |
Vps26b |
C |
G |
9: 26,921,762 (GRCm39) |
E254D |
probably benign |
Het |
Vps8 |
C |
A |
16: 21,372,875 (GRCm39) |
Y113* |
probably null |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Xcr1 |
A |
T |
9: 123,685,048 (GRCm39) |
I238N |
probably damaging |
Het |
Zar1l |
T |
A |
5: 150,430,595 (GRCm39) |
E272V |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,816,862 (GRCm39) |
Y146H |
probably damaging |
Het |
Zfp54 |
G |
T |
17: 21,653,736 (GRCm39) |
E77* |
probably null |
Het |
|
Other mutations in Cmtm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
Senilicus
|
UTSW |
8 |
105,035,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
G1citation:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R2900:Cmtm1
|
UTSW |
8 |
105,036,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4132:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R4615:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R4723:Cmtm1
|
UTSW |
8 |
105,020,307 (GRCm39) |
missense |
probably damaging |
0.96 |
R5277:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5347:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5364:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5394:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5403:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5611:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5715:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5731:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R5773:Cmtm1
|
UTSW |
8 |
105,031,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6017:Cmtm1
|
UTSW |
8 |
105,037,583 (GRCm39) |
unclassified |
probably benign |
|
R6207:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R6313:Cmtm1
|
UTSW |
8 |
105,031,795 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6817:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R6821:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R6822:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R7028:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R7128:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R7132:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R7816:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R7819:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R7841:Cmtm1
|
UTSW |
8 |
105,036,108 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7963:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R7988:Cmtm1
|
UTSW |
8 |
105,036,774 (GRCm39) |
unclassified |
probably benign |
|
R8130:Cmtm1
|
UTSW |
8 |
105,036,088 (GRCm39) |
missense |
unknown |
|
R8152:Cmtm1
|
UTSW |
8 |
105,036,573 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8439:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R8459:Cmtm1
|
UTSW |
8 |
105,036,143 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8683:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
R8843:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R8860:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R8871:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R9093:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R9098:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
R9528:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
RF041:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGAACTGTGGAGACTTTGC -3'
(R):5'- TCAGTACGTGCCACACCATC -3'
Sequencing Primer
(F):5'- AACTGTGGAGACTTTGCTCAAGC -3'
(R):5'- AGTCAGCGACCTTCAGTACGTG -3'
|
Posted On |
2018-06-06 |