Incidental Mutation 'R9040:Rhbdf1'
| ID |
687679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbdf1
|
| Ensembl Gene |
ENSMUSG00000020282 |
| Gene Name |
rhomboid 5 homolog 1 |
| Synonyms |
Dist, Egfr-rs, Dist1 |
| MMRRC Submission |
068867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32159585-32172300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32163063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 438
(T438A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020524]
[ENSMUST00000039601]
[ENSMUST00000121182]
[ENSMUST00000132578]
[ENSMUST00000143988]
[ENSMUST00000144902]
[ENSMUST00000146179]
[ENSMUST00000149043]
[ENSMUST00000150381]
|
| AlphaFold |
Q6PIX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020524
AA Change: T438A
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: T438A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid_SP
|
91 |
308 |
1.6e-116 |
PFAM |
|
Pfam:Rhomboid
|
648 |
792 |
2.1e-32 |
PFAM |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039601
|
| SMART Domains |
Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V2Y|A
|
31 |
123 |
4e-63 |
PDB |
|
Blast:UBQ
|
32 |
119 |
1e-30 |
BLAST |
|
SCOP:d1euvb_
|
32 |
121 |
3e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121182
|
| SMART Domains |
Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V2Y|A
|
31 |
83 |
4e-28 |
PDB |
|
Blast:UBQ
|
32 |
83 |
2e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132578
|
| SMART Domains |
Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid_SP
|
91 |
158 |
7.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143988
|
| SMART Domains |
Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rhomboid
|
52 |
167 |
1.6e-24 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144902
|
| SMART Domains |
Protein: ENSMUSP00000122533
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146179
|
| SMART Domains |
Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid_SP
|
91 |
155 |
7.1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149043
|
| SMART Domains |
Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V2Y|A
|
31 |
96 |
1e-40 |
PDB |
|
Blast:UBQ
|
32 |
96 |
3e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150381
|
| SMART Domains |
Protein: ENSMUSP00000118769
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
C |
8: 44,103,363 (GRCm39) |
|
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,671,466 (GRCm39) |
V391A |
probably damaging |
Het |
| Apba2 |
C |
T |
7: 64,393,072 (GRCm39) |
A531V |
possibly damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,070,414 (GRCm39) |
V227E |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,629,987 (GRCm39) |
V564A |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,382,793 (GRCm39) |
M141K |
possibly damaging |
Het |
| Cd200l1 |
C |
A |
16: 45,264,509 (GRCm39) |
K16N |
possibly damaging |
Het |
| Cdk9 |
C |
A |
2: 32,597,999 (GRCm39) |
Q352H |
probably benign |
Het |
| Chsy3 |
T |
C |
18: 59,542,760 (GRCm39) |
Y633H |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,672,835 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dhodh |
A |
T |
8: 110,328,781 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,950,985 (GRCm39) |
S517N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,889,364 (GRCm39) |
L175* |
probably null |
Het |
| Duxf1 |
A |
G |
10: 58,059,608 (GRCm39) |
I382T |
unknown |
Het |
| Ect2l |
A |
T |
10: 18,077,098 (GRCm39) |
S2T |
possibly damaging |
Het |
| Epn3 |
G |
A |
11: 94,382,749 (GRCm39) |
S445F |
possibly damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,764,438 (GRCm39) |
F1439S |
probably benign |
Het |
| Hormad1 |
A |
T |
3: 95,487,470 (GRCm39) |
E289D |
possibly damaging |
Het |
| Idua |
T |
C |
5: 108,828,929 (GRCm39) |
L391P |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,706,115 (GRCm39) |
A301E |
probably damaging |
Het |
| Kcnk10 |
C |
T |
12: 98,401,098 (GRCm39) |
E526K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,691,798 (GRCm39) |
I229V |
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,207,379 (GRCm39) |
Y400C |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,222,093 (GRCm39) |
G405S |
probably benign |
Het |
| Krt42 |
G |
A |
11: 100,157,859 (GRCm39) |
R202W |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,644,910 (GRCm39) |
V547A |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,161 (GRCm39) |
L169P |
probably benign |
Het |
| Midn |
T |
A |
10: 79,989,918 (GRCm39) |
V262D |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,890,069 (GRCm39) |
I223F |
probably benign |
Het |
| Mtor |
C |
A |
4: 148,548,205 (GRCm39) |
A490E |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,556,082 (GRCm39) |
Q3404* |
probably null |
Het |
| Myo5a |
A |
T |
9: 75,081,341 (GRCm39) |
E975D |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,530,389 (GRCm39) |
Y764C |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,342,734 (GRCm39) |
L769P |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,722,995 (GRCm39) |
G27W |
probably benign |
Het |
| Pank4 |
C |
G |
4: 155,064,559 (GRCm39) |
T706R |
probably benign |
Het |
| Plxnc1 |
G |
T |
10: 94,779,379 (GRCm39) |
C354* |
probably null |
Het |
| Prkca |
A |
G |
11: 107,905,186 (GRCm39) |
I184T |
possibly damaging |
Het |
| Prune2 |
T |
C |
19: 17,097,991 (GRCm39) |
V1165A |
probably damaging |
Het |
| Psmc6 |
T |
A |
14: 45,581,111 (GRCm39) |
D302E |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,324,915 (GRCm39) |
L464P |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,403,268 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,609,672 (GRCm39) |
R4385G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,784,731 (GRCm39) |
Y237H |
probably damaging |
Het |
| Scai |
G |
T |
2: 38,965,164 (GRCm39) |
T560K |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,148,245 (GRCm39) |
L80P |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,864,762 (GRCm39) |
L574P |
probably benign |
Het |
| Slc41a1 |
T |
G |
1: 131,768,623 (GRCm39) |
S194A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,134,360 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,594,136 (GRCm39) |
H1442R |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,808,790 (GRCm39) |
L281Q |
probably damaging |
Het |
| Steap2 |
A |
T |
5: 5,732,722 (GRCm39) |
W101R |
probably benign |
Het |
| Tfap2b |
C |
T |
1: 19,304,314 (GRCm39) |
R375W |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,572,967 (GRCm39) |
T233S |
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,429,092 (GRCm39) |
H286Q |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,457,960 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,311 (GRCm39) |
I791T |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,229 (GRCm39) |
C256R |
probably benign |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,638 (GRCm39) |
N225Y |
probably benign |
Het |
|
| Other mutations in Rhbdf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Rhbdf1
|
APN |
11 |
32,163,484 (GRCm39) |
missense |
probably benign |
|
|
IGL02183:Rhbdf1
|
APN |
11 |
32,160,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02793:Rhbdf1
|
APN |
11 |
32,163,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02875:Rhbdf1
|
APN |
11 |
32,163,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB005:Rhbdf1
|
UTSW |
11 |
32,159,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB015:Rhbdf1
|
UTSW |
11 |
32,159,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
FR4589:Rhbdf1
|
UTSW |
11 |
32,164,391 (GRCm39) |
unclassified |
probably benign |
|
|
R0071:Rhbdf1
|
UTSW |
11 |
32,160,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Rhbdf1
|
UTSW |
11 |
32,160,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0512:Rhbdf1
|
UTSW |
11 |
32,160,875 (GRCm39) |
nonsense |
probably null |
|
|
R0843:Rhbdf1
|
UTSW |
11 |
32,165,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0880:Rhbdf1
|
UTSW |
11 |
32,163,432 (GRCm39) |
splice site |
probably null |
|
|
R1952:Rhbdf1
|
UTSW |
11 |
32,164,277 (GRCm39) |
nonsense |
probably null |
|
|
R2017:Rhbdf1
|
UTSW |
11 |
32,160,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Rhbdf1
|
UTSW |
11 |
32,164,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3032:Rhbdf1
|
UTSW |
11 |
32,159,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Rhbdf1
|
UTSW |
11 |
32,166,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Rhbdf1
|
UTSW |
11 |
32,163,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4865:Rhbdf1
|
UTSW |
11 |
32,164,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Rhbdf1
|
UTSW |
11 |
32,160,222 (GRCm39) |
splice site |
probably null |
|
|
R5728:Rhbdf1
|
UTSW |
11 |
32,159,901 (GRCm39) |
splice site |
probably null |
|
|
R5925:Rhbdf1
|
UTSW |
11 |
32,162,906 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5940:Rhbdf1
|
UTSW |
11 |
32,159,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6083:Rhbdf1
|
UTSW |
11 |
32,160,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Rhbdf1
|
UTSW |
11 |
32,162,007 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6361:Rhbdf1
|
UTSW |
11 |
32,162,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6692:Rhbdf1
|
UTSW |
11 |
32,165,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6727:Rhbdf1
|
UTSW |
11 |
32,164,042 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6825:Rhbdf1
|
UTSW |
11 |
32,159,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Rhbdf1
|
UTSW |
11 |
32,162,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7928:Rhbdf1
|
UTSW |
11 |
32,159,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7940:Rhbdf1
|
UTSW |
11 |
32,166,258 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
|
R7957:Rhbdf1
|
UTSW |
11 |
32,160,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Rhbdf1
|
UTSW |
11 |
32,164,563 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8490:Rhbdf1
|
UTSW |
11 |
32,160,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8939:Rhbdf1
|
UTSW |
11 |
32,160,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Rhbdf1
|
UTSW |
11 |
32,160,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Rhbdf1
|
UTSW |
11 |
32,165,055 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9575:Rhbdf1
|
UTSW |
11 |
32,163,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9654:Rhbdf1
|
UTSW |
11 |
32,166,028 (GRCm39) |
missense |
probably benign |
|
|
V3553:Rhbdf1
|
UTSW |
11 |
32,161,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rhbdf1
|
UTSW |
11 |
32,165,125 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCAATCCAGAAGTTCTC -3'
(R):5'- CATGGATGATCACAGGTAGGCG -3'
Sequencing Primer
(F):5'- AGAAGTTCTCCTGCTGGACG -3'
(R):5'- TGGGACAGAGGCTGAGCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation