Incidental Mutation 'R8005:Sry'
| ID |
616605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sry
|
| Ensembl Gene |
ENSMUSG00000069036 |
| Gene Name |
sex determining region of Chr Y |
| Synonyms |
Tdy, Tdf |
| MMRRC Submission |
046045-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R8005 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Not validated
|
| Chromosome |
Y |
| Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 2663303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 119
(R119K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
| AlphaFold |
Q05738 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091178
AA Change: R119K
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: R119K
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
4 |
74 |
2.76e-24 |
SMART |
|
low complexity region
|
144 |
366 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Variations in expression of alleles on specific backgrounds result in partial and/or complete male to female sex reversal. Deletion of alleles results in XY females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,774 (GRCm39) |
D294G |
probably benign |
Het |
| Ak8 |
A |
T |
2: 28,602,314 (GRCm39) |
S83C |
probably benign |
Het |
| Ankrd34b |
C |
A |
13: 92,575,230 (GRCm39) |
A154E |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,278,341 (GRCm39) |
D1175G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,183 (GRCm39) |
L799F |
probably benign |
Het |
| Aplp1 |
T |
C |
7: 30,135,470 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,059,744 (GRCm39) |
H2742L |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,602,277 (GRCm39) |
Q292* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,830,661 (GRCm39) |
G374D |
probably damaging |
Het |
| B4galt5 |
A |
G |
2: 167,143,384 (GRCm39) |
S347P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,456 (GRCm39) |
T620A |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,450,213 (GRCm39) |
D329V |
probably damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,352,400 (GRCm39) |
|
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
A |
6: 30,873,632 (GRCm39) |
M1L |
possibly damaging |
Het |
| D430041D05Rik |
G |
A |
2: 104,088,599 (GRCm39) |
H164Y |
possibly damaging |
Het |
| Dscaml1 |
G |
T |
9: 45,628,808 (GRCm39) |
G1121C |
probably damaging |
Het |
| Gas2l1 |
A |
T |
11: 5,011,552 (GRCm39) |
S426T |
probably benign |
Het |
| Gm9195 |
T |
A |
14: 72,663,840 (GRCm39) |
I2740F |
probably benign |
Het |
| Irgm1 |
A |
G |
11: 48,757,217 (GRCm39) |
I214T |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,655 (GRCm39) |
T343I |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,163,278 (GRCm39) |
Y804N |
probably damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,722 (GRCm39) |
H432R |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,936,612 (GRCm39) |
M528K |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,006 (GRCm39) |
I162V |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,482,096 (GRCm39) |
N258I |
probably damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,156 (GRCm39) |
T33A |
probably benign |
Het |
| Or2y1b |
G |
T |
11: 49,208,968 (GRCm39) |
M198I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,631,470 (GRCm39) |
R27G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,693 (GRCm39) |
V54A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,328 (GRCm39) |
V20M |
probably damaging |
Het |
| Pigb |
A |
T |
9: 72,922,546 (GRCm39) |
M13K |
unknown |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
C |
7: 116,017,271 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,067 (GRCm39) |
D61V |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pramel17 |
A |
G |
4: 101,694,448 (GRCm39) |
V145A |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,685,144 (GRCm39) |
D256G |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,482,437 (GRCm39) |
D196E |
|
Het |
| Sbf1 |
A |
G |
15: 89,178,408 (GRCm39) |
L1498P |
probably damaging |
Het |
| Sh2b1 |
T |
C |
7: 126,068,479 (GRCm39) |
D444G |
possibly damaging |
Het |
| Slc7a15 |
T |
G |
12: 8,589,395 (GRCm39) |
M51L |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,150,697 (GRCm39) |
I5V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,024,773 (GRCm39) |
C123S |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,625,681 (GRCm39) |
S1423N |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,686 (GRCm39) |
V24A |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,872,684 (GRCm39) |
M331L |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,755 (GRCm39) |
I170V |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,343,796 (GRCm39) |
S1220R |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,507 (GRCm39) |
M77T |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,821 (GRCm39) |
S771P |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,570 (GRCm39) |
A1423V |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,139,941 (GRCm39) |
Y1175N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,873,956 (GRCm39) |
A511T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,563,124 (GRCm39) |
Y58* |
probably null |
Het |
| Wt1 |
T |
C |
2: 104,957,789 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
T |
11: 73,603,140 (GRCm39) |
K695* |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,568 (GRCm39) |
F321S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,064 (GRCm39) |
E364G |
probably damaging |
Het |
|
| Other mutations in Sry |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4304:Sry
|
UTSW |
Y |
2,662,837 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Sry
|
UTSW |
Y |
2,662,824 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Sry
|
UTSW |
Y |
2,663,146 (GRCm39) |
small deletion |
probably benign |
|
|
FR4342:Sry
|
UTSW |
Y |
2,662,835 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Sry
|
UTSW |
Y |
2,662,836 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Sry
|
UTSW |
Y |
2,662,839 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Sry
|
UTSW |
Y |
2,662,832 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Sry
|
UTSW |
Y |
2,663,195 (GRCm39) |
small deletion |
probably benign |
|
|
FR4737:Sry
|
UTSW |
Y |
2,662,837 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Sry
|
UTSW |
Y |
2,662,838 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Sry
|
UTSW |
Y |
2,662,841 (GRCm39) |
small insertion |
probably benign |
|
|
R0288:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
missense |
unknown |
|
|
R0506:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
|
R0690:Sry
|
UTSW |
Y |
2,662,944 (GRCm39) |
small deletion |
probably benign |
|
|
R0784:Sry
|
UTSW |
Y |
2,662,731 (GRCm39) |
missense |
unknown |
|
|
R1373:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
|
R1555:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
|
R1638:Sry
|
UTSW |
Y |
2,663,149 (GRCm39) |
missense |
unknown |
|
|
R2110:Sry
|
UTSW |
Y |
2,662,901 (GRCm39) |
missense |
unknown |
|
|
R2212:Sry
|
UTSW |
Y |
2,663,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3150:Sry
|
UTSW |
Y |
2,662,944 (GRCm39) |
small deletion |
probably benign |
|
|
R3552:Sry
|
UTSW |
Y |
2,663,141 (GRCm39) |
missense |
unknown |
|
|
R4877:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
|
R4888:Sry
|
UTSW |
Y |
2,663,105 (GRCm39) |
missense |
unknown |
|
|
R5028:Sry
|
UTSW |
Y |
2,663,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5266:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
|
R5305:Sry
|
UTSW |
Y |
2,662,982 (GRCm39) |
missense |
unknown |
|
|
R5335:Sry
|
UTSW |
Y |
2,663,647 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5587:Sry
|
UTSW |
Y |
2,662,625 (GRCm39) |
missense |
unknown |
|
|
R5915:Sry
|
UTSW |
Y |
2,662,612 (GRCm39) |
missense |
unknown |
|
|
R6183:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
|
R6184:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
|
R6187:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
|
R6976:Sry
|
UTSW |
Y |
2,662,938 (GRCm39) |
missense |
unknown |
|
|
R7358:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R7632:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R7678:Sry
|
UTSW |
Y |
2,663,248 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7737:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R7812:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R7829:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R8028:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R8082:Sry
|
UTSW |
Y |
2,662,589 (GRCm39) |
missense |
unknown |
|
|
R8212:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R8223:Sry
|
UTSW |
Y |
2,663,204 (GRCm39) |
missense |
unknown |
|
|
R8252:Sry
|
UTSW |
Y |
2,663,298 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8390:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R9027:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
R9429:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
RF002:Sry
|
UTSW |
Y |
2,662,564 (GRCm39) |
small deletion |
probably benign |
|
|
RF006:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
|
RF008:Sry
|
UTSW |
Y |
2,662,826 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Sry
|
UTSW |
Y |
2,662,590 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Sry
|
UTSW |
Y |
2,662,595 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGCTGCTGGTCGTGGAA -3'
(R):5'- GAGATTGAAGATCCTACACAGAGA -3'
Sequencing Primer
(F):5'- CATGGAACTGATGCTGCTGC -3'
(R):5'- TGAAGATCCTACACAGAGAGAAATAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation