Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Fchsd1'

732077

Institutional Source

Beutler Lab

Gene Symbol

Fchsd1

Ensembl Gene

ENSMUSG00000038524

Gene Name

FCH and double SH3 domains 1

Synonyms

A030002D08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38090484-38102827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38102425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 34 (D34E)

Ref Sequence

ENSEMBL: ENSMUSP00000047878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042944] [ENSMUST00000043437] [ENSMUST00000163131] [ENSMUST00000164222] [ENSMUST00000166148]

AlphaFold

Q6PFY1

Predicted Effect

probably benign
Transcript: ENSMUST00000042944

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451

Domain	Start	End	E-Value	Type
SAM	1	68	1.5e-7	SMART
low complexity region	81	98	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
PH	283	376	3.4e-16	SMART
PH	390	480	1.61e-8	SMART
ArfGap	484	606	1.44e-25	SMART
low complexity region	642	661	N/A	INTRINSIC
PH	671	785	2.86e1	SMART
PH	795	901	6.87e-3	SMART
RhoGAP	913	1089	2.11e-47	SMART
Pfam:RA	1113	1206	6.2e-16	PFAM
PH	1220	1323	3.46e-8	SMART
low complexity region	1388	1407	N/A	INTRINSIC
low complexity region	1457	1469	N/A	INTRINSIC
low complexity region	1475	1486	N/A	INTRINSIC
low complexity region	1494	1529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043437
AA Change: D34E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: D34E

Domain	Start	End	E-Value	Type
Pfam:FCH	21	100	1.6e-19	PFAM
coiled coil region	188	209	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
SH3	469	526	1.34e-8	SMART
SH3	547	606	1.94e-14	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	657	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163131
AA Change: D34E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524
AA Change: D34E

Domain	Start	End	E-Value	Type
Pfam:FCH	12	107	1.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164222
AA Change: D34E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524
AA Change: D34E

Domain	Start	End	E-Value	Type
Pfam:FCH	12	56	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166148
AA Change: D34E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524
AA Change: D34E

Domain	Start	End	E-Value	Type
Pfam:FCH	12	93	1.6e-17	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	possibly damaging	Het

Other mutations in Fchsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Fchsd1	APN	18	38,098,946 (GRCm39)	intron	probably benign
IGL01097:Fchsd1	APN	18	38,100,810 (GRCm39)	splice site	probably null
IGL02069:Fchsd1	APN	18	38,100,667 (GRCm39)	nonsense	probably null
R0015:Fchsd1	UTSW	18	38,096,012 (GRCm39)	missense	probably benign	0.05
R0015:Fchsd1	UTSW	18	38,096,012 (GRCm39)	missense	probably benign	0.05
R0755:Fchsd1	UTSW	18	38,101,803 (GRCm39)	splice site	probably null
R1524:Fchsd1	UTSW	18	38,098,950 (GRCm39)	critical splice donor site	probably null
R2041:Fchsd1	UTSW	18	38,100,729 (GRCm39)	critical splice acceptor site	probably null
R3820:Fchsd1	UTSW	18	38,102,510 (GRCm39)	splice site	probably benign
R3821:Fchsd1	UTSW	18	38,102,510 (GRCm39)	splice site	probably benign
R4998:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5017:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5018:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5022:Fchsd1	UTSW	18	38,097,863 (GRCm39)	missense	possibly damaging	0.80
R5023:Fchsd1	UTSW	18	38,097,863 (GRCm39)	missense	possibly damaging	0.80
R5047:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5240:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5309:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5312:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5353:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5354:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5355:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5424:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5517:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5518:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5521:Fchsd1	UTSW	18	38,099,537 (GRCm39)	missense	probably damaging	1.00
R5590:Fchsd1	UTSW	18	38,094,380 (GRCm39)	missense	probably damaging	1.00
R5607:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5608:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5810:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5828:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5906:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5949:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5958:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R5969:Fchsd1	UTSW	18	38,092,926 (GRCm39)	unclassified	probably benign
R6245:Fchsd1	UTSW	18	38,095,828 (GRCm39)	missense	probably damaging	1.00
R6322:Fchsd1	UTSW	18	38,098,753 (GRCm39)	missense	probably benign	0.00
R6433:Fchsd1	UTSW	18	38,097,137 (GRCm39)	missense	possibly damaging	0.91
R6439:Fchsd1	UTSW	18	38,102,487 (GRCm39)	missense	probably damaging	0.97
R6460:Fchsd1	UTSW	18	38,092,897 (GRCm39)	splice site	probably null
R6488:Fchsd1	UTSW	18	38,100,321 (GRCm39)	splice site	probably null
R6650:Fchsd1	UTSW	18	38,099,555 (GRCm39)	nonsense	probably null
R7331:Fchsd1	UTSW	18	38,101,823 (GRCm39)	missense	possibly damaging	0.95
R7715:Fchsd1	UTSW	18	38,099,695 (GRCm39)	splice site	probably null
R7962:Fchsd1	UTSW	18	38,097,212 (GRCm39)	missense	probably damaging	0.97
R8140:Fchsd1	UTSW	18	38,097,395 (GRCm39)	missense	probably damaging	1.00
R8398:Fchsd1	UTSW	18	38,099,577 (GRCm39)	missense	probably damaging	1.00
R8536:Fchsd1	UTSW	18	38,100,823 (GRCm39)	missense	probably benign	0.24
R8747:Fchsd1	UTSW	18	38,096,035 (GRCm39)	missense	probably benign
R9209:Fchsd1	UTSW	18	38,092,706 (GRCm39)	missense	unknown
X0024:Fchsd1	UTSW	18	38,102,444 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAAGGGGCTCTCTATGTATG -3'
(R):5'- AAACAGCCCAGCCTCTTTCG -3'

Sequencing Primer
(F):5'- TATAGCTCCAGTATCTGAAGAGGC -3'
(R):5'- CAGCCTCTTTCGGGCCC -3'

Posted On

2022-11-14