Mutagenetix > Incidental Mutation

Incidental Mutation 'R9082:Ftdc1'

690100

Institutional Source

Beutler Lab

Gene Symbol

Ftdc1

Ensembl Gene

ENSMUSG00000075002

Gene Name

ferritin domain containing 1

Synonyms

Gm813, LOC328695, LOC385656

MMRRC Submission

068901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58434049-58437341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58437294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 5 (R5G)

Ref Sequence

ENSEMBL: ENSMUSP00000097255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099663]

AlphaFold

Q3UWK9

Predicted Effect

probably benign
Transcript: ENSMUST00000099663
AA Change: R5G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097255
Gene: ENSMUSG00000075002
AA Change: R5G

Domain	Start	End	E-Value	Type
Pfam:Ferritin	14	152	7.4e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	G	T	5: 90,698,095 (GRCm39)	C499F	probably damaging	Het
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Ankrd22	A	T	19: 34,126,662 (GRCm39)	V56D	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Ccdc168	G	A	1: 44,099,874 (GRCm39)	S408L	unknown	Het
Cdk4	T	A	10: 126,900,732 (GRCm39)	L128Q	probably damaging	Het
Clu	T	C	14: 66,217,153 (GRCm39)	S329P	probably damaging	Het
Cntnap5c	A	G	17: 58,637,335 (GRCm39)	N1071D	probably damaging	Het
Col5a1	T	C	2: 27,852,122 (GRCm39)	S540P	possibly damaging	Het
Cpne2	A	C	8: 95,295,237 (GRCm39)	I441L	probably benign	Het
Ctu2	T	C	8: 123,203,952 (GRCm39)	S87P	probably damaging	Het
Dhodh	G	T	8: 110,322,734 (GRCm39)	N211K	probably damaging	Het
Dtnb	G	A	12: 3,822,740 (GRCm39)	A570T	possibly damaging	Het
Eif3m	A	T	2: 104,836,217 (GRCm39)	V209E	probably damaging	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fktn	T	C	4: 53,720,010 (GRCm39)	V8A	unknown	Het
Gcnt1	G	T	19: 17,307,559 (GRCm39)	S55R	probably benign	Het
Gm11011	G	T	2: 169,426,424 (GRCm39)	P63Q		Het
Grk5	T	C	19: 61,034,567 (GRCm39)	I105T	possibly damaging	Het
Gskip	G	A	12: 105,665,009 (GRCm39)	S16N	probably benign	Het
Gys1	C	A	7: 45,088,917 (GRCm39)	N169K	probably benign	Het
Itgb2	T	C	10: 77,384,503 (GRCm39)	L208P	probably damaging	Het
Kcnh7	A	G	2: 62,607,878 (GRCm39)	C568R	probably damaging	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lrrc26	T	A	2: 25,180,344 (GRCm39)	F115Y	probably damaging	Het
Mul1	T	C	4: 138,166,945 (GRCm39)	I338T	probably damaging	Het
Ncam2	T	A	16: 81,412,660 (GRCm39)	L716H	probably damaging	Het
Ncoa1	C	T	12: 4,346,106 (GRCm39)	V414I	probably benign	Het
Negr1	C	A	3: 156,774,876 (GRCm39)	C197*	probably null	Het
Nisch	G	T	14: 30,899,331 (GRCm39)	A438E	unknown	Het
Nsun5	T	C	5: 135,402,828 (GRCm39)	L174P	probably damaging	Het
Obscn	A	T	11: 58,903,612 (GRCm39)	V7454E	probably benign	Het
Optn	A	C	2: 5,059,451 (GRCm39)	N22K	probably damaging	Het
Or5k15	C	T	16: 58,709,834 (GRCm39)	V250M	probably damaging	Het
Or6d13	G	A	6: 116,517,969 (GRCm39)	C185Y	probably damaging	Het
Pcdhb22	A	G	18: 37,653,047 (GRCm39)	N248S	probably damaging	Het
Pcnx2	A	C	8: 126,613,753 (GRCm39)	L566R	probably damaging	Het
Pdlim5	C	T	3: 142,009,163 (GRCm39)	V191I	possibly damaging	Het
Pdzrn3	C	T	6: 101,146,094 (GRCm39)		probably null	Het
Peak1	A	T	9: 56,165,504 (GRCm39)	I808N	probably benign	Het
Pomt1	A	C	2: 32,142,973 (GRCm39)	Y617S	probably damaging	Het
Ptch2	G	A	4: 116,962,297 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,302,928 (GRCm39)	H87R	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slc37a4	A	G	9: 44,313,016 (GRCm39)	T333A	probably benign	Het
Slc5a7	A	G	17: 54,604,139 (GRCm39)	V9A	probably benign	Het
Slc6a20a	A	G	9: 123,507,832 (GRCm39)	F14L	possibly damaging	Het
Smg7	A	T	1: 152,715,928 (GRCm39)	M1062K	probably damaging	Het
Tsc22d4	T	C	5: 137,749,509 (GRCm39)	Y262H	probably damaging	Het
Vmn2r83	C	T	10: 79,304,894 (GRCm39)	H35Y	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	Het
Zeb1	C	T	18: 5,772,557 (GRCm39)	H949Y	probably damaging	Het
Zfp184	T	A	13: 22,143,636 (GRCm39)	H447Q	probably damaging	Het
Zfp551	T	C	7: 12,151,004 (GRCm39)	E135G	probably damaging	Het

Other mutations in Ftdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02701:Ftdc1	APN	16	58,436,170 (GRCm39)	missense	probably benign	0.00
IGL02839:Ftdc1	APN	16	58,436,210 (GRCm39)	missense	probably damaging	1.00
IGL03275:Ftdc1	APN	16	58,436,119 (GRCm39)	missense	probably damaging	1.00
R0946:Ftdc1	UTSW	16	58,435,075 (GRCm39)	missense	probably damaging	1.00
R1323:Ftdc1	UTSW	16	58,437,278 (GRCm39)	missense	possibly damaging	0.65
R1323:Ftdc1	UTSW	16	58,437,278 (GRCm39)	missense	possibly damaging	0.65
R1548:Ftdc1	UTSW	16	58,436,202 (GRCm39)	missense	probably benign	0.06
R2382:Ftdc1	UTSW	16	58,436,239 (GRCm39)	splice site	probably null
R2871:Ftdc1	UTSW	16	58,434,342 (GRCm39)	missense	probably benign	0.39
R2871:Ftdc1	UTSW	16	58,434,342 (GRCm39)	missense	probably benign	0.39
R2873:Ftdc1	UTSW	16	58,434,342 (GRCm39)	missense	probably benign	0.39
R2874:Ftdc1	UTSW	16	58,434,342 (GRCm39)	missense	probably benign	0.39
R4690:Ftdc1	UTSW	16	58,434,333 (GRCm39)	missense	probably benign	0.00
R5097:Ftdc1	UTSW	16	58,434,227 (GRCm39)	missense	probably benign	0.15
R5822:Ftdc1	UTSW	16	58,436,075 (GRCm39)	critical splice donor site	probably null
R6234:Ftdc1	UTSW	16	58,435,034 (GRCm39)	missense	probably benign	0.01
R6382:Ftdc1	UTSW	16	58,434,273 (GRCm39)	missense	possibly damaging	0.73
R7170:Ftdc1	UTSW	16	58,436,091 (GRCm39)	nonsense	probably null
R8119:Ftdc1	UTSW	16	58,437,211 (GRCm39)	missense	probably benign	0.00
R9360:Ftdc1	UTSW	16	58,434,234 (GRCm39)	missense	probably benign	0.00
R9718:Ftdc1	UTSW	16	58,434,974 (GRCm39)	missense	probably benign	0.02
RF016:Ftdc1	UTSW	16	58,437,230 (GRCm39)	missense	probably damaging	1.00
X0026:Ftdc1	UTSW	16	58,434,322 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGCCTCGCCATTGAACTAC -3'
(R):5'- GACACAGTGTCCTTGTTGGTAG -3'

Sequencing Primer
(F):5'- ACCTTCTCACCTAATGTTAGATGTG -3'
(R):5'- AGATTAGCAGCTGCAGTCTC -3'

Posted On

2021-11-19