Incidental Mutation 'R5749:Cyhr1'
| ID |
445937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyhr1
|
| Ensembl Gene |
ENSMUSG00000053929 |
| Gene Name |
cysteine and histidine rich 1 |
| Synonyms |
1110031M01Rik, Chrp |
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.343)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76643395-76660117 bp(-) (GRCm38) |
| Type of Mutation |
splice site (575 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 76658644 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000176274]
[ENSMUST00000177359]
[ENSMUST00000229524]
[ENSMUST00000230451]
[ENSMUST00000231152]
[ENSMUST00000230964]
|
| AlphaFold |
Q9QXA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004294
|
| SMART Domains |
Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
coiled coil region
|
195 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
274 |
345 |
N/A |
INTRINSIC |
|
KISc
|
407 |
740 |
3.21e-141 |
SMART |
|
low complexity region
|
745 |
781 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066677
AA Change: D105E
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929
AA Change: D105E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000081291
|
| SMART Domains |
Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
|
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176274
|
| SMART Domains |
Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
RING
|
106 |
150 |
1.9e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177359
AA Change: D105E
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929
AA Change: D105E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231152
AA Change: D105E
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,324,055 (GRCm38) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 65,986,096 (GRCm38) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,946,969 (GRCm38) |
S523P |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,714,112 (GRCm38) |
C44* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 90,223,948 (GRCm38) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,266,965 (GRCm38) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,763,419 (GRCm38) |
I242T |
possibly damaging |
Het |
| Efnb2 |
A |
C |
8: 8,639,347 (GRCm38) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 21,963,041 (GRCm38) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,737,472 (GRCm38) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,797,006 (GRCm38) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 55,995,849 (GRCm38) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 8,995,947 (GRCm38) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,637,327 (GRCm38) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,262,078 (GRCm38) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,906,855 (GRCm38) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 44,140,786 (GRCm38) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,319,753 (GRCm38) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,888,449 (GRCm38) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,413,245 (GRCm38) |
S604L |
probably benign |
Het |
| Olfr1113 |
C |
T |
2: 87,212,943 (GRCm38) |
T17I |
probably benign |
Het |
| Olfr1448 |
A |
G |
19: 12,920,225 (GRCm38) |
V28A |
probably benign |
Het |
| Olfr1510 |
T |
A |
14: 52,410,504 (GRCm38) |
M123L |
probably damaging |
Het |
| Olfr768 |
A |
T |
10: 129,093,097 (GRCm38) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 79,770,085 (GRCm38) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,789,028 (GRCm38) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,718 (GRCm38) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,933,642 (GRCm38) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,524,851 (GRCm38) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,856,371 (GRCm38) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,242,757 (GRCm38) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,703,786 (GRCm38) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 50,844,072 (GRCm38) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,249,310 (GRCm38) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,594,092 (GRCm38) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,451,177 (GRCm38) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 119,941,133 (GRCm38) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,733,273 (GRCm38) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 10,159,032 (GRCm38) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 85,006,771 (GRCm38) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,298,284 (GRCm38) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,425,464 (GRCm38) |
S69P |
probably benign |
Het |
|
| Other mutations in Cyhr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Cyhr1
|
APN |
15 |
76,646,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03163:Cyhr1
|
APN |
15 |
76,659,274 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0107:Cyhr1
|
UTSW |
15 |
76,646,347 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0445:Cyhr1
|
UTSW |
15 |
76,648,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0759:Cyhr1
|
UTSW |
15 |
76,646,185 (GRCm38) |
makesense |
probably null |
|
|
R1327:Cyhr1
|
UTSW |
15 |
76,649,176 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1366:Cyhr1
|
UTSW |
15 |
76,648,969 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1950:Cyhr1
|
UTSW |
15 |
76,659,217 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3416:Cyhr1
|
UTSW |
15 |
76,658,715 (GRCm38) |
splice site |
probably null |
|
|
R5092:Cyhr1
|
UTSW |
15 |
76,646,312 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5860:Cyhr1
|
UTSW |
15 |
76,656,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5860:Cyhr1
|
UTSW |
15 |
76,648,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6032:Cyhr1
|
UTSW |
15 |
76,658,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6032:Cyhr1
|
UTSW |
15 |
76,658,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6397:Cyhr1
|
UTSW |
15 |
76,648,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6481:Cyhr1
|
UTSW |
15 |
76,658,708 (GRCm38) |
splice site |
probably null |
|
|
R6533:Cyhr1
|
UTSW |
15 |
76,647,730 (GRCm38) |
nonsense |
probably null |
|
|
R7466:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7484:Cyhr1
|
UTSW |
15 |
76,646,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7629:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7732:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7763:Cyhr1
|
UTSW |
15 |
76,658,547 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7861:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9300:Cyhr1
|
UTSW |
15 |
76,646,341 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATAGGCCCAACTACCTG -3'
(R):5'- TCATTATGTTGGCCCCAGGG -3'
Sequencing Primer
(F):5'- GACAGACATCCTCCTTTGGCAG -3'
(R):5'- GCCGAGCACACATGAAGACTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation