Incidental Mutation 'R7749:Fgd4'
| ID |
597117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd4
|
| Ensembl Gene |
ENSMUSG00000022788 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 4 |
| Synonyms |
ZFYVE6, Frabin-alpha, Frabin-beta, 9330209B17Rik, Frabin, Frabin-gamma |
| MMRRC Submission |
045805-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16234774-16418400 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16293018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 233
(Y233C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069284]
[ENSMUST00000159542]
[ENSMUST00000161188]
[ENSMUST00000161861]
[ENSMUST00000162671]
|
| AlphaFold |
Q91ZT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069284
AA Change: Y233C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788
AA Change: Y233C
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
210 |
392 |
1.48e-57 |
SMART |
|
PH
|
423 |
523 |
1.91e-19 |
SMART |
|
FYVE
|
551 |
620 |
2.2e-30 |
SMART |
|
PH
|
644 |
742 |
1.31e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159542
AA Change: Y233C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125649
Gene: ENSMUSG00000022788
AA Change: Y233C
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
210 |
392 |
1.48e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161188
AA Change: Y233C
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123763
Gene: ENSMUSG00000022788
AA Change: Y233C
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
210 |
392 |
1.48e-57 |
SMART |
|
PH
|
423 |
523 |
1.91e-19 |
SMART |
|
FYVE
|
551 |
603 |
1.94e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161861
AA Change: Y233C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788
AA Change: Y233C
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
210 |
392 |
1.48e-57 |
SMART |
|
PH
|
423 |
523 |
1.91e-19 |
SMART |
|
FYVE
|
551 |
620 |
2.2e-30 |
SMART |
|
PH
|
644 |
742 |
1.31e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162671
AA Change: Y233C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788
AA Change: Y233C
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
210 |
392 |
1.48e-57 |
SMART |
|
PH
|
423 |
523 |
1.91e-19 |
SMART |
|
FYVE
|
551 |
620 |
2.2e-30 |
SMART |
|
PH
|
644 |
742 |
1.31e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.0739 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (66/67) |
| MGI Phenotype |
FUNCTION: This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(60) : Gene trapped(60) |
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1a |
A |
T |
19: 46,368,186 (GRCm39) |
S254T |
probably benign |
Het |
| Adam12 |
G |
A |
7: 133,826,542 (GRCm39) |
A22V |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,619,775 (GRCm39) |
D87G |
possibly damaging |
Het |
| Aldh6a1 |
A |
T |
12: 84,488,855 (GRCm39) |
I59N |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,536,870 (GRCm39) |
C161Y |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,515 (GRCm39) |
|
probably null |
Het |
| Anks1 |
T |
A |
17: 28,257,115 (GRCm39) |
I707N |
probably damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,904 (GRCm39) |
M200L |
possibly damaging |
Het |
| Bmp1 |
C |
T |
14: 70,730,284 (GRCm39) |
R416H |
probably damaging |
Het |
| Caprin1 |
A |
G |
2: 103,602,099 (GRCm39) |
S548P |
probably benign |
Het |
| Ccdc167 |
T |
A |
17: 29,924,247 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Cfap99 |
T |
A |
5: 34,465,284 (GRCm39) |
D174E |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,056,161 (GRCm39) |
N331T |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,949,488 (GRCm39) |
I35N |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,611,689 (GRCm39) |
S537T |
probably benign |
Het |
| Dctn1 |
A |
T |
6: 83,163,123 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,546,287 (GRCm39) |
M1366L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,802,656 (GRCm39) |
Y3478F |
probably damaging |
Het |
| Efna3 |
A |
G |
3: 89,223,947 (GRCm39) |
Y81H |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,608 (GRCm39) |
V812A |
probably damaging |
Het |
| Erg |
A |
T |
16: 95,178,216 (GRCm39) |
I237N |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,657,185 (GRCm39) |
N176K |
probably damaging |
Het |
| Foxd2 |
G |
A |
4: 114,765,009 (GRCm39) |
A337V |
unknown |
Het |
| Gsdma2 |
T |
C |
11: 98,548,547 (GRCm39) |
L433P |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,343,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,797,788 (GRCm39) |
V48A |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,383,387 (GRCm39) |
S396T |
probably benign |
Het |
| Htr5b |
G |
T |
1: 121,455,487 (GRCm39) |
N144K |
probably damaging |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,172 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,549 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Kcnh1 |
A |
C |
1: 191,959,447 (GRCm39) |
I334L |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,276,346 (GRCm39) |
I158T |
probably benign |
Het |
| Mgat4f |
A |
T |
1: 134,318,250 (GRCm39) |
M341L |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,539,213 (GRCm39) |
T2063A |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,261,531 (GRCm39) |
D47E |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,952,383 (GRCm39) |
S1390P |
probably damaging |
Het |
| Npepps |
T |
G |
11: 97,158,454 (GRCm39) |
I104L |
probably benign |
Het |
| Numb |
A |
G |
12: 83,848,051 (GRCm39) |
S229P |
not run |
Het |
| Opn1sw |
T |
A |
6: 29,380,168 (GRCm39) |
I83F |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,425 (GRCm39) |
S75G |
probably damaging |
Het |
| Or5b95 |
A |
T |
19: 12,657,576 (GRCm39) |
I35F |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,822 (GRCm39) |
H252Y |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,484,162 (GRCm39) |
C603G |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,391,133 (GRCm39) |
H1504N |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,292 (GRCm39) |
N757D |
possibly damaging |
Het |
| Ppia |
A |
G |
11: 6,369,569 (GRCm39) |
T152A |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,878,346 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
A |
5: 115,686,575 (GRCm39) |
Y356N |
probably benign |
Het |
| Rhoa |
G |
C |
9: 108,213,914 (GRCm39) |
C159S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,749,506 (GRCm39) |
C69Y |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,074,961 (GRCm39) |
S512P |
possibly damaging |
Het |
| Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,599,260 (GRCm39) |
K297R |
possibly damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,405,263 (GRCm39) |
Y287H |
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,910 (GRCm39) |
C381S |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,178,938 (GRCm39) |
M649K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,212,289 (GRCm39) |
I79V |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,467 (GRCm39) |
N172S |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,844 (GRCm39) |
Y661C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,659 (GRCm39) |
N18084D |
probably damaging |
Het |
| Usp48 |
A |
T |
4: 137,377,728 (GRCm39) |
K1020M |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,920 (GRCm39) |
N764S |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,339 (GRCm39) |
C134S |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,946,003 (GRCm39) |
D481V |
probably damaging |
Het |
| Zfp949 |
G |
A |
9: 88,451,923 (GRCm39) |
G498R |
probably damaging |
Het |
|
| Other mutations in Fgd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Fgd4
|
APN |
16 |
16,302,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01455:Fgd4
|
APN |
16 |
16,308,354 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02035:Fgd4
|
APN |
16 |
16,308,280 (GRCm39) |
splice site |
probably benign |
|
|
IGL02353:Fgd4
|
APN |
16 |
16,279,909 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02360:Fgd4
|
APN |
16 |
16,279,909 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03100:Fgd4
|
APN |
16 |
16,295,383 (GRCm39) |
splice site |
probably benign |
|
|
11287:Fgd4
|
UTSW |
16 |
16,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Fgd4
|
UTSW |
16 |
16,241,765 (GRCm39) |
splice site |
probably benign |
|
|
R0853:Fgd4
|
UTSW |
16 |
16,292,251 (GRCm39) |
splice site |
probably benign |
|
|
R0879:Fgd4
|
UTSW |
16 |
16,295,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Fgd4
|
UTSW |
16 |
16,302,337 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1619:Fgd4
|
UTSW |
16 |
16,241,920 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1635:Fgd4
|
UTSW |
16 |
16,292,893 (GRCm39) |
nonsense |
probably null |
|
|
R2018:Fgd4
|
UTSW |
16 |
16,253,824 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2120:Fgd4
|
UTSW |
16 |
16,243,692 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2292:Fgd4
|
UTSW |
16 |
16,253,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2902:Fgd4
|
UTSW |
16 |
16,243,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Fgd4
|
UTSW |
16 |
16,254,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Fgd4
|
UTSW |
16 |
16,241,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Fgd4
|
UTSW |
16 |
16,302,402 (GRCm39) |
missense |
probably benign |
|
|
R5196:Fgd4
|
UTSW |
16 |
16,302,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5372:Fgd4
|
UTSW |
16 |
16,302,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5457:Fgd4
|
UTSW |
16 |
16,279,873 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5486:Fgd4
|
UTSW |
16 |
16,292,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Fgd4
|
UTSW |
16 |
16,302,345 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6962:Fgd4
|
UTSW |
16 |
16,301,951 (GRCm39) |
splice site |
probably null |
|
|
R7207:Fgd4
|
UTSW |
16 |
16,302,420 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7732:Fgd4
|
UTSW |
16 |
16,302,459 (GRCm39) |
missense |
probably benign |
|
|
R7846:Fgd4
|
UTSW |
16 |
16,240,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Fgd4
|
UTSW |
16 |
16,287,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8517:Fgd4
|
UTSW |
16 |
16,240,509 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8755:Fgd4
|
UTSW |
16 |
16,302,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9015:Fgd4
|
UTSW |
16 |
16,271,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Fgd4
|
UTSW |
16 |
16,240,494 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9259:Fgd4
|
UTSW |
16 |
16,295,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Fgd4
|
UTSW |
16 |
16,308,353 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9554:Fgd4
|
UTSW |
16 |
16,308,353 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9653:Fgd4
|
UTSW |
16 |
16,254,461 (GRCm39) |
missense |
probably benign |
|
|
R9682:Fgd4
|
UTSW |
16 |
16,302,202 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Fgd4
|
UTSW |
16 |
16,302,334 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCACAGAAGTCCCATTTCTC -3'
(R):5'- CATACAGGTAGGGGCATAGTTTTAG -3'
Sequencing Primer
(F):5'- ACAGAAGTCCCATTTCTCCCGTC -3'
(R):5'- CTAAGCCGTAAGTTTCCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation