Incidental Mutation 'R8327:Scmh1'
| ID |
644148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scmh1
|
| Ensembl Gene |
ENSMUSG00000000085 |
| Gene Name |
sex comb on midleg homolog 1 |
| Synonyms |
Scml3 |
| MMRRC Submission |
067858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120379699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 505
(H505Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000064991]
[ENSMUST00000106298]
[ENSMUST00000106301]
|
| AlphaFold |
Q8K214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000087
AA Change: H505Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: H505Y
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
28 |
126 |
2.47e-48 |
SMART |
|
MBT
|
134 |
235 |
1.36e-45 |
SMART |
|
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
|
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
|
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064991
AA Change: H505Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: H505Y
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
28 |
126 |
2.47e-48 |
SMART |
|
MBT
|
134 |
235 |
1.36e-45 |
SMART |
|
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
|
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
|
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106298
AA Change: H505Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: H505Y
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
28 |
126 |
2.47e-48 |
SMART |
|
MBT
|
134 |
235 |
1.36e-45 |
SMART |
|
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
|
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
|
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106301
AA Change: H505Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: H505Y
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
28 |
126 |
2.47e-48 |
SMART |
|
MBT
|
134 |
235 |
1.36e-45 |
SMART |
|
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
|
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
|
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120950
Gene: ENSMUSG00000000085
AA Change: H159Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(67) : Targeted(4) Gene trapped(63)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,685 (GRCm39) |
D843V |
possibly damaging |
Het |
| 6330409D20Rik |
T |
A |
2: 32,627,623 (GRCm39) |
Q111L |
unknown |
Het |
| Abcc5 |
C |
A |
16: 20,241,068 (GRCm39) |
R39L |
probably benign |
Het |
| Acbd3 |
C |
A |
1: 180,566,158 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,300,985 (GRCm39) |
L95P |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,137,764 (GRCm39) |
D68E |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,015 (GRCm39) |
I1093F |
possibly damaging |
Het |
| Arid2 |
T |
A |
15: 96,260,485 (GRCm39) |
D411E |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,436,850 (GRCm39) |
Y811N |
probably damaging |
Het |
| Calhm5 |
A |
C |
10: 33,972,064 (GRCm39) |
F124V |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,630 (GRCm39) |
H616R |
probably benign |
Het |
| Ccdc198 |
C |
T |
14: 49,470,356 (GRCm39) |
G197S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,627,762 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Dagla |
C |
T |
19: 10,228,451 (GRCm39) |
V656I |
probably benign |
Het |
| Dguok |
A |
C |
6: 83,464,061 (GRCm39) |
W166G |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,196,388 (GRCm39) |
A1603V |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,039,984 (GRCm39) |
Q138* |
probably null |
Het |
| Fbxl19 |
T |
A |
7: 127,347,520 (GRCm39) |
C25* |
probably null |
Het |
| Gm49383 |
C |
A |
12: 69,243,643 (GRCm39) |
E79* |
probably null |
Het |
| Lcor |
C |
T |
19: 41,570,996 (GRCm39) |
S63L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,322,268 (GRCm39) |
Y1887C |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,232,062 (GRCm39) |
D1305G |
probably damaging |
Het |
| Mreg |
C |
A |
1: 72,203,257 (GRCm39) |
R107L |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,981,470 (GRCm39) |
S521T |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,059 (GRCm39) |
V437L |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,942 (GRCm39) |
M153V |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,558,926 (GRCm39) |
I40N |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,186 (GRCm39) |
E311G |
possibly damaging |
Het |
| Pcdhb5 |
A |
C |
18: 37,453,953 (GRCm39) |
K111T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,906,192 (GRCm39) |
I580V |
probably benign |
Het |
| Plaat3 |
T |
C |
19: 7,556,514 (GRCm39) |
L105P |
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,761,646 (GRCm39) |
S841P |
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,975,566 (GRCm39) |
N31S |
probably damaging |
Het |
| Setd1a |
T |
A |
7: 127,390,669 (GRCm39) |
L1115H |
unknown |
Het |
| Slc26a3 |
A |
G |
12: 31,516,430 (GRCm39) |
D596G |
possibly damaging |
Het |
| Smg5 |
G |
T |
3: 88,252,714 (GRCm39) |
A167S |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,277,004 (GRCm39) |
T255A |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,899,731 (GRCm39) |
A568T |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,836,311 (GRCm39) |
P740T |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,680 (GRCm39) |
L353P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,704,343 (GRCm39) |
E242G |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,680 (GRCm39) |
T189S |
probably benign |
Het |
| Zfp638 |
T |
G |
6: 83,905,679 (GRCm39) |
L44W |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,947,482 (GRCm39) |
T826I |
possibly damaging |
Het |
| Zfp865 |
G |
A |
7: 5,034,058 (GRCm39) |
S681N |
probably benign |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Scmh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01613:Scmh1
|
APN |
4 |
120,387,097 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01962:Scmh1
|
APN |
4 |
120,340,781 (GRCm39) |
splice site |
probably benign |
|
|
IGL02013:Scmh1
|
APN |
4 |
120,340,929 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02081:Scmh1
|
APN |
4 |
120,372,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Scmh1
|
APN |
4 |
120,372,416 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02530:Scmh1
|
APN |
4 |
120,385,343 (GRCm39) |
splice site |
probably benign |
|
|
IGL02887:Scmh1
|
APN |
4 |
120,325,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0024:Scmh1
|
UTSW |
4 |
120,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Scmh1
|
UTSW |
4 |
120,387,062 (GRCm39) |
unclassified |
probably benign |
|
|
R0164:Scmh1
|
UTSW |
4 |
120,387,062 (GRCm39) |
unclassified |
probably benign |
|
|
R0200:Scmh1
|
UTSW |
4 |
120,341,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Scmh1
|
UTSW |
4 |
120,372,327 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1624:Scmh1
|
UTSW |
4 |
120,386,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Scmh1
|
UTSW |
4 |
120,340,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Scmh1
|
UTSW |
4 |
120,335,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Scmh1
|
UTSW |
4 |
120,386,473 (GRCm39) |
intron |
probably benign |
|
|
R4570:Scmh1
|
UTSW |
4 |
120,385,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Scmh1
|
UTSW |
4 |
120,362,478 (GRCm39) |
unclassified |
probably benign |
|
|
R5564:Scmh1
|
UTSW |
4 |
120,325,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Scmh1
|
UTSW |
4 |
120,374,143 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5991:Scmh1
|
UTSW |
4 |
120,379,817 (GRCm39) |
missense |
probably benign |
|
|
R5999:Scmh1
|
UTSW |
4 |
120,362,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7097:Scmh1
|
UTSW |
4 |
120,382,252 (GRCm39) |
missense |
probably benign |
|
|
R7432:Scmh1
|
UTSW |
4 |
120,386,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Scmh1
|
UTSW |
4 |
120,319,331 (GRCm39) |
missense |
probably benign |
|
|
R8745:Scmh1
|
UTSW |
4 |
120,362,559 (GRCm39) |
nonsense |
probably null |
|
|
R9018:Scmh1
|
UTSW |
4 |
120,362,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9141:Scmh1
|
UTSW |
4 |
120,362,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9283:Scmh1
|
UTSW |
4 |
120,319,337 (GRCm39) |
missense |
probably benign |
|
|
R9426:Scmh1
|
UTSW |
4 |
120,362,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9454:Scmh1
|
UTSW |
4 |
120,372,276 (GRCm39) |
missense |
probably benign |
|
|
R9487:Scmh1
|
UTSW |
4 |
120,320,284 (GRCm39) |
nonsense |
probably null |
|
|
R9617:Scmh1
|
UTSW |
4 |
120,340,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9775:Scmh1
|
UTSW |
4 |
120,340,820 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Scmh1
|
UTSW |
4 |
120,335,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGTGATACACAGGTGTCC -3'
(R):5'- CTCTGATCCCAGGAACAAGG -3'
Sequencing Primer
(F):5'- TCCTGAGTCCTTGTAGGGC -3'
(R):5'- GGCAAAGTCATGAGGCCCAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation