Incidental Mutation 'R5564:Scmh1'
ID |
436733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scmh1
|
Ensembl Gene |
ENSMUSG00000000085 |
Gene Name |
sex comb on midleg homolog 1 |
Synonyms |
Scml3 |
MMRRC Submission |
043121-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5564 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 120325575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 97
(N97K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000064991]
[ENSMUST00000106298]
[ENSMUST00000106301]
|
AlphaFold |
Q8K214 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000087
AA Change: N97K
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085 AA Change: N97K
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 damaging
Transcript: ENSMUST00000064991
AA Change: N97K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085 AA Change: N97K
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 damaging
Transcript: ENSMUST00000106298
AA Change: N97K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085 AA Change: N97K
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 damaging
Transcript: ENSMUST00000106301
AA Change: N97K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085 AA Change: N97K
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 |
|
Meta Mutation Damage Score |
0.7654 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (57/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,659,513 (GRCm39) |
V322A |
probably benign |
Het |
Abca8b |
G |
T |
11: 109,825,407 (GRCm39) |
L1598M |
probably benign |
Het |
Adam4 |
T |
C |
12: 81,466,348 (GRCm39) |
T758A |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,169,814 (GRCm39) |
I424T |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,321,312 (GRCm39) |
Y1316C |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,517,517 (GRCm39) |
S388P |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,098,765 (GRCm39) |
L247S |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
Cdhr3 |
G |
T |
12: 33,098,985 (GRCm39) |
Y535* |
probably null |
Het |
Clasp2 |
T |
C |
9: 113,641,836 (GRCm39) |
|
probably null |
Het |
Col16a1 |
T |
A |
4: 129,947,151 (GRCm39) |
D165E |
probably damaging |
Het |
Col9a1 |
A |
T |
1: 24,234,436 (GRCm39) |
|
probably benign |
Het |
Cpa3 |
A |
T |
3: 20,296,307 (GRCm39) |
I10N |
possibly damaging |
Het |
Cstf3 |
T |
A |
2: 104,439,347 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
C |
A |
7: 119,570,689 (GRCm39) |
|
probably null |
Het |
E2f6 |
T |
C |
12: 16,874,706 (GRCm39) |
C263R |
probably benign |
Het |
Eps8l2 |
C |
A |
7: 140,936,534 (GRCm39) |
Q288K |
possibly damaging |
Het |
Fam193a |
T |
A |
5: 34,578,199 (GRCm39) |
V231D |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 102,691,029 (GRCm39) |
G325S |
probably benign |
Het |
Gpatch8 |
T |
A |
11: 102,429,111 (GRCm39) |
E39D |
unknown |
Het |
Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
Kansl3 |
G |
T |
1: 36,385,045 (GRCm39) |
H629N |
possibly damaging |
Het |
Kcna10 |
C |
A |
3: 107,101,545 (GRCm39) |
H59N |
probably benign |
Het |
Kitl |
A |
T |
10: 99,915,886 (GRCm39) |
E138D |
possibly damaging |
Het |
Kpna2 |
T |
C |
11: 106,881,571 (GRCm39) |
K353R |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,958,798 (GRCm39) |
I143N |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,420,538 (GRCm39) |
S239P |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,880,105 (GRCm39) |
S1066T |
probably damaging |
Het |
Mettl23 |
G |
T |
11: 116,739,865 (GRCm39) |
E47* |
probably null |
Het |
Or52i2 |
T |
C |
7: 102,319,433 (GRCm39) |
F102S |
probably damaging |
Het |
Or5af1 |
C |
T |
11: 58,722,039 (GRCm39) |
Q20* |
probably null |
Het |
Proca1 |
T |
A |
11: 78,092,699 (GRCm39) |
D48E |
possibly damaging |
Het |
Rab34 |
T |
G |
11: 78,082,458 (GRCm39) |
V227G |
probably damaging |
Het |
Rab7 |
A |
T |
6: 87,990,632 (GRCm39) |
L14Q |
probably damaging |
Het |
Rasgef1c |
C |
T |
11: 49,847,934 (GRCm39) |
S23F |
probably benign |
Het |
Rit1 |
A |
G |
3: 88,633,457 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,174,568 (GRCm39) |
T172A |
probably benign |
Het |
Skint6 |
T |
C |
4: 112,846,162 (GRCm39) |
E655G |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,771,905 (GRCm39) |
V243A |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,789,042 (GRCm39) |
|
probably benign |
Het |
Smim7 |
C |
T |
8: 73,324,867 (GRCm39) |
G3R |
probably damaging |
Het |
Snurf |
C |
T |
7: 59,645,282 (GRCm39) |
R44H |
possibly damaging |
Het |
Snx13 |
G |
A |
12: 35,174,471 (GRCm39) |
A667T |
possibly damaging |
Het |
Sowaha |
T |
G |
11: 53,369,590 (GRCm39) |
H382P |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmem259 |
G |
T |
10: 79,814,442 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
G |
9: 103,211,277 (GRCm39) |
T945A |
probably damaging |
Het |
Tor1aip2 |
T |
C |
1: 155,939,307 (GRCm39) |
|
probably benign |
Het |
Ube3b |
T |
C |
5: 114,527,136 (GRCm39) |
V118A |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,711,717 (GRCm39) |
K773E |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,925,852 (GRCm39) |
|
probably benign |
Het |
Zfp871 |
A |
G |
17: 32,994,842 (GRCm39) |
V111A |
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 |
|
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 |
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'- ATGCAGTTTATCCGTAGTCTGCC -3'
(R):5'- GCCTTTCAGGGGAACTACTC -3'
Sequencing Primer
(F):5'- AGTTTATCCGTAGTCTGCCTAATTC -3'
(R):5'- AGAAAAGAGTAGGGATGTGTTCC -3'
|
Posted On |
2016-10-24 |