Incidental Mutation 'R9785:Klhdc7b'
| ID |
734299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc7b
|
| Ensembl Gene |
ENSMUSG00000091680 |
| Gene Name |
kelch domain containing 7B |
| Synonyms |
EG546648 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
R9785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89269120-89273070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89272621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 510
(D510Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109314]
[ENSMUST00000166926]
[ENSMUST00000167959]
[ENSMUST00000225666]
|
| AlphaFold |
A0A286YD60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109314
|
| SMART Domains |
Protein: ENSMUSP00000104937
Gene: ENSMUSG00000078938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptonemal_3
|
1 |
86 |
4e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166926
AA Change: D510Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: D510Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
Kelch
|
366 |
416 |
1.04e-6 |
SMART |
|
Kelch
|
417 |
461 |
4.9e-3 |
SMART |
|
Kelch
|
462 |
504 |
4.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167959
|
| SMART Domains |
Protein: ENSMUSP00000131766
Gene: ENSMUSG00000078938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptonemal_3
|
1 |
85 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225666
AA Change: D1168Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
| Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
| Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,606 (GRCm39) |
W88R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
| Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
| Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
| Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
| Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,381,038 (GRCm39) |
T511I |
probably damaging |
Het |
| Gabra5 |
C |
T |
7: 57,140,584 (GRCm39) |
V38I |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
| Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
| Jam2 |
T |
C |
16: 84,571,397 (GRCm39) |
L8P |
unknown |
Het |
| Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
| Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
| Selenon |
C |
T |
4: 134,270,374 (GRCm39) |
G326D |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,314,718 (GRCm39) |
V308A |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
| Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
probably damaging |
Het |
|
| Other mutations in Klhdc7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Klhdc7b
|
APN |
15 |
89,271,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02711:Klhdc7b
|
APN |
15 |
89,272,246 (GRCm39) |
nonsense |
probably null |
|
|
R0115:Klhdc7b
|
UTSW |
15 |
89,272,724 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0718:Klhdc7b
|
UTSW |
15 |
89,272,372 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0729:Klhdc7b
|
UTSW |
15 |
89,271,598 (GRCm39) |
nonsense |
probably null |
|
|
R0971:Klhdc7b
|
UTSW |
15 |
89,271,257 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1794:Klhdc7b
|
UTSW |
15 |
89,271,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1815:Klhdc7b
|
UTSW |
15 |
89,271,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1893:Klhdc7b
|
UTSW |
15 |
89,271,898 (GRCm39) |
splice site |
probably null |
|
|
R3508:Klhdc7b
|
UTSW |
15 |
89,271,095 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3552:Klhdc7b
|
UTSW |
15 |
89,271,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4001:Klhdc7b
|
UTSW |
15 |
89,272,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Klhdc7b
|
UTSW |
15 |
89,271,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4727:Klhdc7b
|
UTSW |
15 |
89,271,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Klhdc7b
|
UTSW |
15 |
89,272,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Klhdc7b
|
UTSW |
15 |
89,271,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5643:Klhdc7b
|
UTSW |
15 |
89,271,862 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5778:Klhdc7b
|
UTSW |
15 |
89,271,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Klhdc7b
|
UTSW |
15 |
89,271,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5942:Klhdc7b
|
UTSW |
15 |
89,271,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6020:Klhdc7b
|
UTSW |
15 |
89,272,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Klhdc7b
|
UTSW |
15 |
89,271,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6810:Klhdc7b
|
UTSW |
15 |
89,272,559 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7399:Klhdc7b
|
UTSW |
15 |
89,272,847 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7548:Klhdc7b
|
UTSW |
15 |
89,272,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7640:Klhdc7b
|
UTSW |
15 |
89,271,463 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8461:Klhdc7b
|
UTSW |
15 |
89,271,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8712:Klhdc7b
|
UTSW |
15 |
89,271,025 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8890:Klhdc7b
|
UTSW |
15 |
89,272,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9497:Klhdc7b
|
UTSW |
15 |
89,272,463 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGATACCTGGACCTTG -3'
(R):5'- TCCCCTCCGAAACTGTGAAG -3'
Sequencing Primer
(F):5'- GATACCTGGACCTTGAGAGCATC -3'
(R):5'- CCTCCGAAACTGTGAAGGTAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation