Incidental Mutation 'R8835:Fhod1'
| ID |
674095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
068663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R8835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106065484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000098453]
[ENSMUST00000109372]
|
| AlphaFold |
Q6P9Q4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014922
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3DAD|B
|
1 |
339 |
N/A |
PDB |
|
Blast:Drf_GBD
|
85 |
216 |
1e-48 |
BLAST |
|
SCOP:d1ee4a_
|
120 |
240 |
4e-4 |
SMART |
|
Blast:FH2
|
231 |
318 |
6e-38 |
BLAST |
|
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
|
Blast:FH2
|
386 |
483 |
2e-10 |
BLAST |
|
low complexity region
|
514 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
643 |
N/A |
INTRINSIC |
|
FH2
|
648 |
1100 |
3.16e-121 |
SMART |
|
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
|
Blast:FH2
|
1135 |
1179 |
1e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098453
|
| SMART Domains |
Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF788
|
7 |
103 |
3.7e-29 |
PFAM |
|
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109372
|
| SMART Domains |
Protein: ENSMUSP00000104997
Gene: ENSMUSG00000014856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF788
|
7 |
103 |
4.2e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
C |
3: 121,896,433 (GRCm39) |
G555A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,718,914 (GRCm39) |
K15E |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,429,379 (GRCm39) |
I2V |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,972,144 (GRCm39) |
C26* |
probably null |
Het |
| Arhgef38 |
A |
T |
3: 132,837,832 (GRCm39) |
D699E |
unknown |
Het |
| Atxn2 |
T |
C |
5: 121,940,248 (GRCm39) |
S1008P |
possibly damaging |
Het |
| C1rb |
A |
G |
6: 124,552,217 (GRCm39) |
K312E |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,484,264 (GRCm39) |
R424Q |
probably damaging |
Het |
| Ccdc27 |
G |
A |
4: 154,127,023 (GRCm39) |
T13I |
unknown |
Het |
| Cdc42bpa |
G |
T |
1: 179,896,916 (GRCm39) |
V400F |
probably damaging |
Het |
| Cemip |
C |
A |
7: 83,586,651 (GRCm39) |
G1301V |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,584,429 (GRCm39) |
L650P |
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,386,597 (GRCm39) |
D222V |
|
Het |
| Cog8 |
A |
T |
8: 107,773,920 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,447,313 (GRCm39) |
L1279P |
unknown |
Het |
| Cyyr1 |
A |
T |
16: 85,254,553 (GRCm39) |
Y116* |
probably null |
Het |
| Dlgap4 |
A |
T |
2: 156,587,946 (GRCm39) |
S597C |
probably damaging |
Het |
| Dpysl5 |
T |
A |
5: 30,936,282 (GRCm39) |
|
probably null |
Het |
| Dtl |
G |
T |
1: 191,293,609 (GRCm39) |
H189Q |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,723 (GRCm39) |
N275K |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,321,874 (GRCm39) |
C110R |
|
Het |
| Fndc1 |
A |
C |
17: 7,958,111 (GRCm39) |
F1712C |
probably damaging |
Het |
| Gcnt7 |
G |
A |
2: 172,295,957 (GRCm39) |
T289M |
probably damaging |
Het |
| Gm11020 |
A |
T |
8: 105,048,293 (GRCm39) |
E32V |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,627 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
G |
A |
9: 85,619,563 (GRCm39) |
L126F |
possibly damaging |
Het |
| Il17rb |
T |
G |
14: 29,722,308 (GRCm39) |
E241A |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,941,802 (GRCm39) |
R631Q |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,750,118 (GRCm39) |
S991T |
possibly damaging |
Het |
| Mctp2 |
T |
G |
7: 71,852,161 (GRCm39) |
E455A |
probably benign |
Het |
| Mgat4a |
A |
T |
1: 37,491,372 (GRCm39) |
I421N |
possibly damaging |
Het |
| Myof |
C |
A |
19: 37,955,547 (GRCm39) |
V526L |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,248,551 (GRCm39) |
G2297D |
possibly damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,307 (GRCm39) |
|
probably benign |
Het |
| Nkx6-1 |
G |
T |
5: 101,811,971 (GRCm39) |
P44T |
unknown |
Het |
| Nploc4 |
T |
C |
11: 120,309,122 (GRCm39) |
K160R |
possibly damaging |
Het |
| Olfm3 |
C |
A |
3: 114,916,061 (GRCm39) |
A331D |
probably damaging |
Het |
| Or10g6 |
A |
C |
9: 39,934,171 (GRCm39) |
S161R |
possibly damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,528,264 (GRCm39) |
N1898S |
probably benign |
Het |
| Pde1a |
G |
A |
2: 79,708,522 (GRCm39) |
L299F |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,454,775 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Prom1 |
T |
G |
5: 44,175,722 (GRCm39) |
Y533S |
probably damaging |
Het |
| Prrt4 |
C |
A |
6: 29,169,986 (GRCm39) |
C822F |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,285,201 (GRCm39) |
D542A |
possibly damaging |
Het |
| Ptrh2 |
T |
C |
11: 86,580,412 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pum1 |
C |
T |
4: 130,471,064 (GRCm39) |
T439M |
probably damaging |
Het |
| Rarb |
A |
T |
14: 16,575,011 (GRCm38) |
F2I |
probably benign |
Het |
| Rpp21 |
G |
A |
17: 36,566,678 (GRCm39) |
S127L |
probably benign |
Het |
| Scgb1b19 |
T |
G |
7: 32,986,948 (GRCm39) |
V33G |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,013,949 (GRCm39) |
V74D |
possibly damaging |
Het |
| Spint3 |
T |
A |
2: 164,411,923 (GRCm39) |
K29* |
probably null |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,228,258 (GRCm39) |
W1648R |
probably benign |
Het |
| Tbc1d21 |
C |
G |
9: 58,273,991 (GRCm39) |
V62L |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,270 (GRCm39) |
N130S |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,304,975 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tpd52l1 |
G |
T |
10: 31,255,314 (GRCm39) |
T11K |
probably benign |
Het |
| Ttll10 |
G |
T |
4: 156,133,055 (GRCm39) |
P10T |
probably benign |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,409 (GRCm39) |
I150V |
possibly damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,127,411 (GRCm39) |
Y263N |
probably damaging |
Het |
| Zfp354a |
C |
T |
11: 50,960,628 (GRCm39) |
R279* |
probably null |
Het |
| Zfp715 |
A |
G |
7: 42,948,430 (GRCm39) |
I510T |
|
Het |
| Zfp735 |
A |
T |
11: 73,601,692 (GRCm39) |
H212L |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,772 (GRCm39) |
T944A |
unknown |
Het |
|
| Other mutations in Fhod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Fhod1
|
APN |
8 |
106,058,734 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01149:Fhod1
|
APN |
8 |
106,074,439 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01325:Fhod1
|
APN |
8 |
106,058,281 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01470:Fhod1
|
APN |
8 |
106,056,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Fhod1
|
APN |
8 |
106,057,055 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01861:Fhod1
|
APN |
8 |
106,057,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02864:Fhod1
|
APN |
8 |
106,063,796 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02951:Fhod1
|
APN |
8 |
106,057,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
reactive
|
UTSW |
8 |
106,063,066 (GRCm39) |
unclassified |
probably benign |
|
|
treason
|
UTSW |
8 |
106,063,982 (GRCm39) |
unclassified |
probably benign |
|
|
R0016:Fhod1
|
UTSW |
8 |
106,058,287 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0016:Fhod1
|
UTSW |
8 |
106,058,287 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0071:Fhod1
|
UTSW |
8 |
106,063,857 (GRCm39) |
splice site |
probably null |
|
|
R0071:Fhod1
|
UTSW |
8 |
106,063,857 (GRCm39) |
splice site |
probably null |
|
|
R0498:Fhod1
|
UTSW |
8 |
106,056,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1234:Fhod1
|
UTSW |
8 |
106,063,795 (GRCm39) |
unclassified |
probably benign |
|
|
R1465:Fhod1
|
UTSW |
8 |
106,065,546 (GRCm39) |
unclassified |
probably benign |
|
|
R1465:Fhod1
|
UTSW |
8 |
106,065,546 (GRCm39) |
unclassified |
probably benign |
|
|
R1485:Fhod1
|
UTSW |
8 |
106,063,430 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1585:Fhod1
|
UTSW |
8 |
106,063,957 (GRCm39) |
unclassified |
probably benign |
|
|
R1615:Fhod1
|
UTSW |
8 |
106,074,463 (GRCm39) |
unclassified |
probably benign |
|
|
R1778:Fhod1
|
UTSW |
8 |
106,056,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Fhod1
|
UTSW |
8 |
106,074,421 (GRCm39) |
unclassified |
probably benign |
|
|
R2291:Fhod1
|
UTSW |
8 |
106,063,596 (GRCm39) |
unclassified |
probably benign |
|
|
R2864:Fhod1
|
UTSW |
8 |
106,059,543 (GRCm39) |
missense |
probably null |
0.97 |
|
R2865:Fhod1
|
UTSW |
8 |
106,059,543 (GRCm39) |
missense |
probably null |
0.97 |
|
R3775:Fhod1
|
UTSW |
8 |
106,058,270 (GRCm39) |
unclassified |
probably benign |
|
|
R4107:Fhod1
|
UTSW |
8 |
106,064,670 (GRCm39) |
unclassified |
probably benign |
|
|
R4422:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
|
R4423:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
|
R4424:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
|
R4425:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
|
R4641:Fhod1
|
UTSW |
8 |
106,056,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Fhod1
|
UTSW |
8 |
106,064,493 (GRCm39) |
unclassified |
probably benign |
|
|
R4757:Fhod1
|
UTSW |
8 |
106,074,443 (GRCm39) |
unclassified |
probably benign |
|
|
R5004:Fhod1
|
UTSW |
8 |
106,063,577 (GRCm39) |
unclassified |
probably benign |
|
|
R5082:Fhod1
|
UTSW |
8 |
106,057,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Fhod1
|
UTSW |
8 |
106,063,066 (GRCm39) |
unclassified |
probably benign |
|
|
R6033:Fhod1
|
UTSW |
8 |
106,063,066 (GRCm39) |
unclassified |
probably benign |
|
|
R6298:Fhod1
|
UTSW |
8 |
106,063,780 (GRCm39) |
unclassified |
probably benign |
|
|
R6320:Fhod1
|
UTSW |
8 |
106,063,982 (GRCm39) |
unclassified |
probably benign |
|
|
R6362:Fhod1
|
UTSW |
8 |
106,058,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6449:Fhod1
|
UTSW |
8 |
106,056,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Fhod1
|
UTSW |
8 |
106,064,522 (GRCm39) |
unclassified |
probably benign |
|
|
R6816:Fhod1
|
UTSW |
8 |
106,057,176 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6955:Fhod1
|
UTSW |
8 |
106,059,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Fhod1
|
UTSW |
8 |
106,063,771 (GRCm39) |
missense |
unknown |
|
|
R7567:Fhod1
|
UTSW |
8 |
106,074,469 (GRCm39) |
missense |
unknown |
|
|
R7697:Fhod1
|
UTSW |
8 |
106,074,563 (GRCm39) |
unclassified |
probably benign |
|
|
R7789:Fhod1
|
UTSW |
8 |
106,056,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Fhod1
|
UTSW |
8 |
106,057,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8105:Fhod1
|
UTSW |
8 |
106,063,847 (GRCm39) |
missense |
unknown |
|
|
R9200:Fhod1
|
UTSW |
8 |
106,058,072 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9266:Fhod1
|
UTSW |
8 |
106,065,531 (GRCm39) |
missense |
unknown |
|
|
R9426:Fhod1
|
UTSW |
8 |
106,056,490 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9429:Fhod1
|
UTSW |
8 |
106,057,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Fhod1
|
UTSW |
8 |
106,064,694 (GRCm39) |
nonsense |
probably null |
|
|
R9562:Fhod1
|
UTSW |
8 |
106,074,422 (GRCm39) |
missense |
unknown |
|
|
R9566:Fhod1
|
UTSW |
8 |
106,064,516 (GRCm39) |
missense |
unknown |
|
|
R9736:Fhod1
|
UTSW |
8 |
106,059,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Fhod1
|
UTSW |
8 |
106,064,378 (GRCm39) |
missense |
unknown |
|
|
R9746:Fhod1
|
UTSW |
8 |
106,064,048 (GRCm39) |
missense |
unknown |
|
|
R9748:Fhod1
|
UTSW |
8 |
106,058,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGGTATGAGAGTACCCC -3'
(R):5'- TGGGCTTGATTCCTAGTAGCAC -3'
Sequencing Primer
(F):5'- GAGGTATGAGAGTACCCCCATTTC -3'
(R):5'- GGCTTGATTCCTAGTAGCACAGAAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation