Incidental Mutation 'R5700:Scmh1'
| ID |
450834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scmh1
|
| Ensembl Gene |
ENSMUSG00000000085 |
| Gene Name |
sex comb on midleg homolog 1 |
| Synonyms |
Scml3 |
| MMRRC Submission |
043328-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120374143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 445
(V445A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000064991]
[ENSMUST00000106298]
[ENSMUST00000106301]
|
| AlphaFold |
Q8K214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000087
AA Change: V445A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: V445A
| 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: V445A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: V445A
| 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: V445A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: V445A
| 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: V445A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: V445A
| 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 |
unknown
Transcript: ENSMUST00000122860
AA Change: V99A
|
| SMART Domains |
Protein: ENSMUSP00000120950
Gene: ENSMUSG00000000085
AA Change: V99A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144862
|
| Meta Mutation Damage Score |
0.0844 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,786,633 (GRCm39) |
Q155L |
probably benign |
Het |
| Acadvl |
A |
C |
11: 69,904,029 (GRCm39) |
Y242D |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
T |
9: 31,770,061 (GRCm39) |
F156I |
probably damaging |
Het |
| Best1 |
T |
C |
19: 9,974,563 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,651,514 (GRCm39) |
S136P |
possibly damaging |
Het |
| Btla |
T |
A |
16: 45,070,936 (GRCm39) |
Y298* |
probably null |
Het |
| Casr |
T |
A |
16: 36,329,979 (GRCm39) |
I452F |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,288,260 (GRCm39) |
P141H |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,842,065 (GRCm39) |
V296A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,877 (GRCm39) |
I63F |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,313,952 (GRCm39) |
V40M |
probably damaging |
Het |
| Fam53b |
A |
T |
7: 132,361,749 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,002,956 (GRCm39) |
I105V |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,643 (GRCm39) |
D204G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,003 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
A |
T |
7: 59,805,510 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
A |
6: 64,071,416 (GRCm39) |
V413D |
possibly damaging |
Het |
| Hgf |
C |
T |
5: 16,815,122 (GRCm39) |
P471L |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Hs6st3 |
C |
T |
14: 119,376,199 (GRCm39) |
R125* |
probably null |
Het |
| Kdm4b |
T |
C |
17: 56,658,700 (GRCm39) |
I15T |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,476 (GRCm39) |
N93S |
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,968 (GRCm39) |
Q197* |
probably null |
Het |
| Medag |
T |
C |
5: 149,345,682 (GRCm39) |
V7A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nckap5 |
C |
T |
1: 125,904,662 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,024,020 (GRCm39) |
K550R |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,748 (GRCm39) |
N75S |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,171 (GRCm39) |
V103E |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,356 (GRCm39) |
I206F |
probably damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,318 (GRCm39) |
I93T |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,532,010 (GRCm39) |
S101P |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,964,589 (GRCm39) |
N594S |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Ppp2r1b |
T |
C |
9: 50,789,457 (GRCm39) |
Y443H |
probably damaging |
Het |
| Prnd |
G |
A |
2: 131,795,263 (GRCm39) |
V128I |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,309,697 (GRCm39) |
P156Q |
probably damaging |
Het |
| Serpinb6c |
A |
T |
13: 34,083,291 (GRCm39) |
M41K |
probably damaging |
Het |
| Slc66a1 |
C |
T |
4: 139,027,565 (GRCm39) |
S259N |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,971,641 (GRCm39) |
V303A |
possibly damaging |
Het |
| Ston1 |
T |
A |
17: 88,951,767 (GRCm39) |
S639R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,913,461 (GRCm39) |
D153G |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,324,171 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trim34b |
G |
T |
7: 103,985,618 (GRCm39) |
V418F |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,404,350 (GRCm39) |
V33M |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,931,084 (GRCm39) |
V412A |
probably benign |
Het |
| Zfand1 |
T |
A |
3: 10,406,079 (GRCm39) |
N210I |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,660,499 (GRCm39) |
H1251R |
probably 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 |
|
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 |
|
R8327:Scmh1
|
UTSW |
4 |
120,379,699 (GRCm39) |
missense |
probably benign |
|
|
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'- GGCACTGCCTTTTGTAACCTG -3'
(R):5'- AAGGGCAGAAACCAGATCTC -3'
Sequencing Primer
(F):5'- TTTGTAACCTGCCAAGCCTAAG -3'
(R):5'- AACCAGATCTCCGGAGTGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation