Incidental Mutation 'R7391:Zfp616'
ID |
573457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
045473-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7391 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73976155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 808
(H808R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136549
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074813]
[ENSMUST00000108463]
[ENSMUST00000116546]
[ENSMUST00000178159]
|
AlphaFold |
J3QN14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074813
|
SMART Domains |
Protein: ENSMUSP00000074365 Gene: ENSMUSG00000069476
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108463
|
SMART Domains |
Protein: ENSMUSP00000104103 Gene: ENSMUSG00000069476
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
low complexity region
|
249 |
258 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116546
|
SMART Domains |
Protein: ENSMUSP00000112245 Gene: ENSMUSG00000069476
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178159
AA Change: H808R
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: H808R
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
125 |
447 |
7.61e-6 |
PROSPERO |
ZnF_C2H2
|
452 |
474 |
3.11e-2 |
SMART |
ZnF_C2H2
|
509 |
531 |
2.61e-4 |
SMART |
ZnF_C2H2
|
537 |
559 |
1.47e-3 |
SMART |
ZnF_C2H2
|
565 |
587 |
5.21e-4 |
SMART |
ZnF_C2H2
|
593 |
615 |
1.22e-4 |
SMART |
ZnF_C2H2
|
621 |
643 |
2.57e-3 |
SMART |
ZnF_C2H2
|
649 |
671 |
9.22e-5 |
SMART |
ZnF_C2H2
|
677 |
699 |
5.9e-3 |
SMART |
ZnF_C2H2
|
705 |
727 |
4.94e-5 |
SMART |
ZnF_C2H2
|
733 |
755 |
8.34e-3 |
SMART |
ZnF_C2H2
|
761 |
783 |
1.6e-4 |
SMART |
ZnF_C2H2
|
789 |
811 |
6.88e-4 |
SMART |
ZnF_C2H2
|
817 |
839 |
1.6e-4 |
SMART |
ZnF_C2H2
|
845 |
867 |
1.3e-4 |
SMART |
ZnF_C2H2
|
873 |
895 |
7.37e-4 |
SMART |
ZnF_C2H2
|
901 |
923 |
1.6e-4 |
SMART |
ZnF_C2H2
|
929 |
951 |
1.3e-4 |
SMART |
ZnF_C2H2
|
957 |
979 |
3.95e-4 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef3 |
A |
T |
10: 18,522,007 (GRCm39) |
I673K |
probably benign |
Het |
Arhgap32 |
C |
A |
9: 32,093,235 (GRCm39) |
T196K |
probably benign |
Het |
Azi2 |
T |
A |
9: 117,879,960 (GRCm39) |
|
probably null |
Het |
B3gnt2 |
A |
T |
11: 22,786,482 (GRCm39) |
C235* |
probably null |
Het |
Capn5 |
C |
T |
7: 97,780,426 (GRCm39) |
V315M |
probably benign |
Het |
Ccl24 |
T |
A |
5: 135,599,676 (GRCm39) |
R111S |
possibly damaging |
Het |
Cdk9 |
A |
G |
2: 32,602,083 (GRCm39) |
V45A |
probably damaging |
Het |
Cep162 |
G |
T |
9: 87,130,547 (GRCm39) |
S21* |
probably null |
Het |
Chil3 |
T |
A |
3: 106,071,496 (GRCm39) |
Y56F |
probably damaging |
Het |
Ctr9 |
T |
A |
7: 110,642,378 (GRCm39) |
L368* |
probably null |
Het |
Ctss |
A |
G |
3: 95,436,852 (GRCm39) |
E45G |
probably benign |
Het |
Cyp2c29 |
A |
T |
19: 39,296,211 (GRCm39) |
Q214L |
probably null |
Het |
Cyp2d34 |
T |
A |
15: 82,502,587 (GRCm39) |
N183I |
probably benign |
Het |
Dhx29 |
T |
A |
13: 113,099,393 (GRCm39) |
N1139K |
probably benign |
Het |
Elp1 |
C |
A |
4: 56,781,211 (GRCm39) |
Q487H |
possibly damaging |
Het |
Elp1 |
T |
G |
4: 56,781,212 (GRCm39) |
Q487P |
probably benign |
Het |
Ermp1 |
C |
A |
19: 29,604,468 (GRCm39) |
|
probably null |
Het |
Ermp1 |
T |
A |
19: 29,604,469 (GRCm39) |
|
probably null |
Het |
Evi2 |
A |
G |
11: 79,406,493 (GRCm39) |
S361P |
probably benign |
Het |
Ext2 |
T |
A |
2: 93,560,612 (GRCm39) |
K518M |
probably damaging |
Het |
Fgl1 |
A |
C |
8: 41,663,483 (GRCm39) |
M15R |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,820,663 (GRCm39) |
D5465E |
possibly damaging |
Het |
Hdlbp |
A |
T |
1: 93,358,783 (GRCm39) |
I256N |
possibly damaging |
Het |
Hmmr |
G |
T |
11: 40,598,613 (GRCm39) |
|
probably null |
Het |
Hnrnpu |
T |
C |
1: 178,164,643 (GRCm39) |
Q165R |
unknown |
Het |
Homer3 |
G |
A |
8: 70,742,134 (GRCm39) |
A132T |
probably benign |
Het |
Ift70a1 |
T |
C |
2: 75,810,359 (GRCm39) |
K575E |
probably benign |
Het |
Kcnb1 |
T |
C |
2: 166,947,370 (GRCm39) |
R493G |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,516,778 (GRCm39) |
T396S |
probably benign |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Krtap4-1 |
A |
G |
11: 99,518,810 (GRCm39) |
S67P |
unknown |
Het |
Lama4 |
G |
T |
10: 38,963,383 (GRCm39) |
|
probably null |
Het |
Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
Mical2 |
A |
T |
7: 111,919,816 (GRCm39) |
E442V |
probably damaging |
Het |
Muc16 |
C |
T |
9: 18,550,832 (GRCm39) |
V5154I |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,539,317 (GRCm39) |
M2028K |
probably benign |
Het |
Ncr1 |
T |
A |
7: 4,347,470 (GRCm39) |
W249R |
possibly damaging |
Het |
Neurod6 |
T |
C |
6: 55,656,616 (GRCm39) |
D7G |
probably damaging |
Het |
Nwd1 |
A |
G |
8: 73,389,046 (GRCm39) |
E158G |
probably damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,198 (GRCm39) |
N282K |
possibly damaging |
Het |
Or2h15 |
A |
T |
17: 38,441,941 (GRCm39) |
F47L |
probably benign |
Het |
Or2t26 |
A |
G |
11: 49,039,806 (GRCm39) |
T241A |
probably damaging |
Het |
Or2y11 |
T |
C |
11: 49,443,371 (GRCm39) |
S266P |
probably damaging |
Het |
Or51a39 |
T |
C |
7: 102,363,189 (GRCm39) |
N144D |
probably benign |
Het |
Padi2 |
A |
G |
4: 140,665,266 (GRCm39) |
D457G |
probably benign |
Het |
Parn |
C |
A |
16: 13,485,870 (GRCm39) |
|
probably null |
Het |
Pcdh1 |
C |
T |
18: 38,335,838 (GRCm39) |
E266K |
possibly damaging |
Het |
Pigr |
A |
G |
1: 130,777,303 (GRCm39) |
D703G |
probably damaging |
Het |
Ppm1f |
T |
A |
16: 16,732,098 (GRCm39) |
S183T |
probably benign |
Het |
Ppp2r5b |
T |
A |
19: 6,278,544 (GRCm39) |
Q455L |
probably benign |
Het |
Pramel20 |
T |
A |
4: 143,298,876 (GRCm39) |
L273H |
probably damaging |
Het |
Ptpn13 |
C |
T |
5: 103,688,847 (GRCm39) |
S880L |
probably damaging |
Het |
R3hdm4 |
T |
C |
10: 79,746,943 (GRCm39) |
K240R |
probably benign |
Het |
Rin1 |
T |
C |
19: 5,100,888 (GRCm39) |
M1T |
probably null |
Het |
Rundc3b |
T |
A |
5: 8,609,455 (GRCm39) |
M170L |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,611,322 (GRCm39) |
|
probably null |
Het |
Scn11a |
T |
C |
9: 119,624,783 (GRCm39) |
D513G |
probably damaging |
Het |
Slc27a2 |
C |
A |
2: 126,395,082 (GRCm39) |
P3Q |
unknown |
Het |
Slc4a8 |
A |
G |
15: 100,682,743 (GRCm39) |
I187M |
probably damaging |
Het |
Slc6a11 |
A |
T |
6: 114,215,422 (GRCm39) |
I441F |
probably benign |
Het |
Stx2 |
C |
T |
5: 129,065,867 (GRCm39) |
R263Q |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,145,185 (GRCm39) |
W427R |
probably damaging |
Het |
Tes |
T |
A |
6: 17,096,166 (GRCm39) |
H51Q |
probably damaging |
Het |
Thnsl2 |
T |
C |
6: 71,108,914 (GRCm39) |
D299G |
probably damaging |
Het |
Tmem30b |
T |
C |
12: 73,592,702 (GRCm39) |
S138G |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,385,650 (GRCm39) |
H274L |
probably damaging |
Het |
Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
Unc13b |
A |
G |
4: 43,216,459 (GRCm39) |
I253V |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,734,687 (GRCm39) |
S3305G |
probably benign |
Het |
Ush2a |
TCACC |
TC |
1: 188,694,205 (GRCm39) |
|
probably benign |
Het |
Virma |
A |
G |
4: 11,508,099 (GRCm39) |
D267G |
probably damaging |
Het |
Vmn1r46 |
C |
T |
6: 89,953,607 (GRCm39) |
S152L |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,065,502 (GRCm39) |
N1621S |
probably benign |
Het |
Zfhx3 |
G |
A |
8: 109,674,475 (GRCm39) |
A1842T |
probably damaging |
Het |
Zfp583 |
A |
G |
7: 6,319,498 (GRCm39) |
S505P |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,030,619 (GRCm39) |
Y1107C |
possibly damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,653 (GRCm39) |
F570S |
possibly damaging |
Het |
Zfp85 |
A |
T |
13: 67,897,410 (GRCm39) |
Y221N |
probably damaging |
Het |
|
Other mutations in Zfp616 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00530:Zfp616
|
APN |
11 |
73,974,439 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00570:Zfp616
|
APN |
11 |
73,976,631 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00594:Zfp616
|
APN |
11 |
73,973,789 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01861:Zfp616
|
APN |
11 |
73,973,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03022:Zfp616
|
APN |
11 |
73,973,800 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0197:Zfp616
|
UTSW |
11 |
73,976,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R0442:Zfp616
|
UTSW |
11 |
73,975,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0497:Zfp616
|
UTSW |
11 |
73,974,306 (GRCm39) |
missense |
probably benign |
0.00 |
R0651:Zfp616
|
UTSW |
11 |
73,974,555 (GRCm39) |
nonsense |
probably null |
|
R0730:Zfp616
|
UTSW |
11 |
73,975,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Zfp616
|
UTSW |
11 |
73,976,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R0926:Zfp616
|
UTSW |
11 |
73,976,644 (GRCm39) |
missense |
probably benign |
0.04 |
R0940:Zfp616
|
UTSW |
11 |
73,975,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Zfp616
|
UTSW |
11 |
73,973,767 (GRCm39) |
makesense |
probably null |
|
R1272:Zfp616
|
UTSW |
11 |
73,976,062 (GRCm39) |
missense |
probably benign |
0.08 |
R1446:Zfp616
|
UTSW |
11 |
73,974,064 (GRCm39) |
splice site |
probably null |
|
R1482:Zfp616
|
UTSW |
11 |
73,974,803 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1553:Zfp616
|
UTSW |
11 |
73,974,744 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1564:Zfp616
|
UTSW |
11 |
73,975,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Zfp616
|
UTSW |
11 |
73,976,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R1796:Zfp616
|
UTSW |
11 |
73,976,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R1797:Zfp616
|
UTSW |
11 |
73,976,105 (GRCm39) |
nonsense |
probably null |
|
R1993:Zfp616
|
UTSW |
11 |
73,975,795 (GRCm39) |
missense |
probably benign |
0.08 |
R2026:Zfp616
|
UTSW |
11 |
73,974,413 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2124:Zfp616
|
UTSW |
11 |
73,973,869 (GRCm39) |
splice site |
probably null |
|
R2126:Zfp616
|
UTSW |
11 |
73,976,229 (GRCm39) |
missense |
probably benign |
0.08 |
R2199:Zfp616
|
UTSW |
11 |
73,975,456 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2265:Zfp616
|
UTSW |
11 |
73,976,289 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2404:Zfp616
|
UTSW |
11 |
73,975,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Zfp616
|
UTSW |
11 |
73,974,121 (GRCm39) |
missense |
probably benign |
0.01 |
R2519:Zfp616
|
UTSW |
11 |
73,975,094 (GRCm39) |
nonsense |
probably null |
|
R3103:Zfp616
|
UTSW |
11 |
73,962,561 (GRCm39) |
missense |
probably benign |
0.01 |
R3611:Zfp616
|
UTSW |
11 |
73,974,268 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3703:Zfp616
|
UTSW |
11 |
73,974,145 (GRCm39) |
nonsense |
probably null |
|
R3744:Zfp616
|
UTSW |
11 |
73,974,813 (GRCm39) |
missense |
probably benign |
0.01 |
R4043:Zfp616
|
UTSW |
11 |
73,976,108 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4273:Zfp616
|
UTSW |
11 |
73,974,526 (GRCm39) |
missense |
probably benign |
0.00 |
R4384:Zfp616
|
UTSW |
11 |
73,974,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4469:Zfp616
|
UTSW |
11 |
73,961,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R4560:Zfp616
|
UTSW |
11 |
73,973,860 (GRCm39) |
missense |
probably benign |
0.00 |
R4821:Zfp616
|
UTSW |
11 |
73,975,033 (GRCm39) |
missense |
probably benign |
0.41 |
R4844:Zfp616
|
UTSW |
11 |
73,975,225 (GRCm39) |
missense |
probably benign |
0.10 |
R4948:Zfp616
|
UTSW |
11 |
73,974,830 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5007:Zfp616
|
UTSW |
11 |
73,974,643 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5198:Zfp616
|
UTSW |
11 |
73,974,336 (GRCm39) |
missense |
probably benign |
0.33 |
R5344:Zfp616
|
UTSW |
11 |
73,975,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5918:Zfp616
|
UTSW |
11 |
73,974,086 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5933:Zfp616
|
UTSW |
11 |
73,973,952 (GRCm39) |
missense |
probably damaging |
0.96 |
R6084:Zfp616
|
UTSW |
11 |
73,974,672 (GRCm39) |
nonsense |
probably null |
|
R6421:Zfp616
|
UTSW |
11 |
73,974,696 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6494:Zfp616
|
UTSW |
11 |
73,976,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R6523:Zfp616
|
UTSW |
11 |
73,973,968 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6849:Zfp616
|
UTSW |
11 |
73,976,276 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6910:Zfp616
|
UTSW |
11 |
73,975,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Zfp616
|
UTSW |
11 |
73,976,087 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7213:Zfp616
|
UTSW |
11 |
73,976,689 (GRCm39) |
missense |
probably benign |
0.05 |
R7302:Zfp616
|
UTSW |
11 |
73,976,205 (GRCm39) |
missense |
probably benign |
0.08 |
R7654:Zfp616
|
UTSW |
11 |
73,974,013 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7877:Zfp616
|
UTSW |
11 |
73,975,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7889:Zfp616
|
UTSW |
11 |
73,976,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Zfp616
|
UTSW |
11 |
73,974,894 (GRCm39) |
missense |
probably benign |
|
R8061:Zfp616
|
UTSW |
11 |
73,974,340 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8212:Zfp616
|
UTSW |
11 |
73,976,569 (GRCm39) |
missense |
probably damaging |
0.96 |
R8335:Zfp616
|
UTSW |
11 |
73,974,726 (GRCm39) |
nonsense |
probably null |
|
R8361:Zfp616
|
UTSW |
11 |
73,975,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R8486:Zfp616
|
UTSW |
11 |
73,974,909 (GRCm39) |
missense |
probably benign |
0.18 |
R8695:Zfp616
|
UTSW |
11 |
73,975,710 (GRCm39) |
missense |
probably benign |
0.45 |
R8808:Zfp616
|
UTSW |
11 |
73,976,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R9022:Zfp616
|
UTSW |
11 |
73,976,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R9126:Zfp616
|
UTSW |
11 |
73,976,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9164:Zfp616
|
UTSW |
11 |
73,975,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R9293:Zfp616
|
UTSW |
11 |
73,974,744 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9421:Zfp616
|
UTSW |
11 |
73,974,331 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9512:Zfp616
|
UTSW |
11 |
73,975,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9529:Zfp616
|
UTSW |
11 |
73,976,596 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9529:Zfp616
|
UTSW |
11 |
73,975,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9606:Zfp616
|
UTSW |
11 |
73,976,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Zfp616
|
UTSW |
11 |
73,976,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Zfp616
|
UTSW |
11 |
73,975,276 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Zfp616
|
UTSW |
11 |
73,976,467 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1176:Zfp616
|
UTSW |
11 |
73,974,045 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1176:Zfp616
|
UTSW |
11 |
73,973,859 (GRCm39) |
missense |
probably benign |
|
Z1177:Zfp616
|
UTSW |
11 |
73,975,878 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGTCTTAAAAGGCACTACAGAA -3'
(R):5'- TTGAAGATTTGAAGACTGGGCA -3'
Sequencing Primer
(F):5'- GCCTGTTCCTCAAGTCTTAAAAGG -3'
(R):5'- TCTTTAAGACTTGAGGAACGGGC -3'
|
Posted On |
2019-09-13 |