Mutagenetix > Incidental Mutation

Incidental Mutation 'R9626:Fyttd1'

725177

Institutional Source

Beutler Lab

Gene Symbol

Fyttd1

Ensembl Gene

ENSMUSG00000022800

Gene Name

forty-two-three domain containing 1

Synonyms

3830411L18Rik, 2010005M05Rik, 4933423A17Rik, 3830421F13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R9626 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32697870-32729245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32725915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 290 (L290S)

Ref Sequence

ENSEMBL: ENSMUSP00000023489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023489] [ENSMUST00000120345] [ENSMUST00000171325] [ENSMUST00000232272]

AlphaFold

Q91Z49

Predicted Effect

probably damaging
Transcript: ENSMUST00000023489
AA Change: L290S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023489
Gene: ENSMUSG00000022800
AA Change: L290S

Domain	Start	End	E-Value	Type
Pfam:FYTT	10	317	1.7e-176	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120345
AA Change: L102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113541
Gene: ENSMUSG00000022800
AA Change: L102S

Domain	Start	End	E-Value	Type
Pfam:FYTT	2	129	1e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171325
AA Change: L256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131446
Gene: ENSMUSG00000022800
AA Change: L256S

Domain	Start	End	E-Value	Type
Pfam:FYTT	3	210	6.8e-137	PFAM
Pfam:FYTT	209	283	4.6e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000232272
AA Change: L172S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,127,502 (GRCm39)	N37I	unknown	Het
Abca9	T	A	11: 110,011,606 (GRCm39)	T1146S	probably benign	Het
Acnat2	G	A	4: 49,380,179 (GRCm39)	H400Y	probably damaging	Het
Adgrd1	T	C	5: 129,275,721 (GRCm39)	S768P	probably damaging	Het
Arap2	T	A	5: 62,906,878 (GRCm39)	H47L	probably benign	Het
Atxn1	T	A	13: 45,710,796 (GRCm39)	N712I	possibly damaging	Het
Bri3bp	T	A	5: 125,531,572 (GRCm39)	S173T	probably damaging	Het
Camta1	A	T	4: 151,168,287 (GRCm39)	S254R	probably damaging	Het
Card9	T	C	2: 26,247,294 (GRCm39)	E285G	probably benign	Het
Celf2	G	A	2: 6,590,835 (GRCm39)	A320V	probably benign	Het
Celsr3	T	C	9: 108,726,521 (GRCm39)	I3250T	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntrob	T	C	11: 69,202,167 (GRCm39)	H475R	possibly damaging	Het
Dcaf6	G	A	1: 165,227,264 (GRCm39)	R288*	probably null	Het
Ebna1bp2	G	A	4: 118,478,371 (GRCm39)		probably benign	Het
Erich3	A	T	3: 154,444,730 (GRCm39)	D302V	probably benign	Het
Fbxo48	T	A	11: 16,904,333 (GRCm39)	*162K	probably null	Het
Gcc1	T	C	6: 28,418,917 (GRCm39)	D472G	probably damaging	Het
Gjb4	C	T	4: 127,246,081 (GRCm39)		probably benign	Het
Gm5157	G	T	7: 20,919,396 (GRCm39)	T49K	probably damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Hnrnpm	G	T	17: 33,896,264 (GRCm39)	D88E	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hunk	C	T	16: 90,272,791 (GRCm39)	T365M	probably damaging	Het
Lamb1	A	G	12: 31,354,669 (GRCm39)	D972G	probably benign	Het
Mamdc4	A	G	2: 25,458,273 (GRCm39)	L379P	probably damaging	Het
Mcrs1	A	G	15: 99,146,353 (GRCm39)	L179P	probably damaging	Het
Mterf2	C	T	10: 84,956,295 (GRCm39)	A110T	probably benign	Het
Mucl1	A	G	15: 103,783,934 (GRCm39)	S91P	possibly damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ndst4	A	C	3: 125,476,829 (GRCm39)	D18A	probably damaging	Het
Ndufv1	A	T	19: 4,058,064 (GRCm39)	C382*	probably null	Het
Npc1l1	T	C	11: 6,177,854 (GRCm39)	K519E	probably benign	Het
Nphs1	A	G	7: 30,166,991 (GRCm39)	K747E	probably benign	Het
Nubp2	C	G	17: 25,103,374 (GRCm39)		probably null	Het
Odad2	G	T	18: 7,211,422 (GRCm39)	C817*	probably null	Het
Or13a19	T	C	7: 139,903,236 (GRCm39)	V208A	probably benign	Het
Or5b97	A	T	19: 12,878,600 (GRCm39)	D181E	possibly damaging	Het
Or7a36	T	G	10: 78,820,213 (GRCm39)	D196E	probably benign	Het
Or7a40	A	G	16: 16,491,491 (GRCm39)	M118T	probably damaging	Het
Or8b48	A	G	9: 38,492,977 (GRCm39)	T135A	probably benign	Het
Pcdhac2	T	G	18: 37,279,555 (GRCm39)	L845R	probably damaging	Het
Pcdhb14	A	C	18: 37,581,787 (GRCm39)	T298P	probably damaging	Het
Phldb2	A	T	16: 45,592,547 (GRCm39)	L957Q	possibly damaging	Het
Pole	A	G	5: 110,459,959 (GRCm39)	D1121G	possibly damaging	Het
Ppp1r3g	C	A	13: 36,153,612 (GRCm39)	T344K	probably benign	Het
Prpf8	A	G	11: 75,385,681 (GRCm39)	K954R	possibly damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Sap18b	A	G	8: 96,552,098 (GRCm39)	E36G	possibly damaging	Het
Slc46a2	A	T	4: 59,914,241 (GRCm39)	F227L	probably benign	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spmip4	T	A	6: 50,550,930 (GRCm39)	K506N		Het
Ssc5d	C	A	7: 4,946,568 (GRCm39)	T974K	probably benign	Het
Tenm4	C	A	7: 96,545,345 (GRCm39)	R2491S	probably damaging	Het
Tex2	T	C	11: 106,437,579 (GRCm39)	E697G	unknown	Het
Tmem44	A	T	16: 30,366,226 (GRCm39)	F67I	possibly damaging	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Ttc39a	A	G	4: 109,278,570 (GRCm39)	D77G	possibly damaging	Het
Ttc9	A	G	12: 81,710,301 (GRCm39)	I198V	probably benign	Het
Ttn	C	T	2: 76,661,550 (GRCm39)	V11942M	unknown	Het
Uqcrc2	T	A	7: 120,237,118 (GRCm39)	Y55*	probably null	Het
Vmn1r160	A	T	7: 22,571,273 (GRCm39)	M209L	probably benign	Het
Vmn2r50	A	T	7: 9,771,960 (GRCm39)	C580*	probably null	Het
Vmn2r96	A	G	17: 18,793,758 (GRCm39)	E34G	probably benign	Het
Zmynd8	C	T	2: 165,654,268 (GRCm39)		probably null	Het

Other mutations in Fyttd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02072:Fyttd1	APN	16	32,721,031 (GRCm39)	missense	probably damaging	0.99
IGL03119:Fyttd1	APN	16	32,721,065 (GRCm39)	missense	probably benign	0.08
R0014:Fyttd1	UTSW	16	32,725,924 (GRCm39)	missense	probably damaging	1.00
R0014:Fyttd1	UTSW	16	32,725,924 (GRCm39)	missense	probably damaging	1.00
R1742:Fyttd1	UTSW	16	32,725,923 (GRCm39)	nonsense	probably null
R5018:Fyttd1	UTSW	16	32,722,787 (GRCm39)	critical splice acceptor site	probably null
R5800:Fyttd1	UTSW	16	32,711,658 (GRCm39)	missense	probably damaging	1.00
R5893:Fyttd1	UTSW	16	32,719,283 (GRCm39)	missense	probably damaging	1.00
R7325:Fyttd1	UTSW	16	32,704,618 (GRCm39)	missense	probably benign	0.43
R8146:Fyttd1	UTSW	16	32,722,862 (GRCm39)	missense	probably damaging	1.00
R8702:Fyttd1	UTSW	16	32,704,529 (GRCm39)	missense	probably damaging	0.99
R9649:Fyttd1	UTSW	16	32,715,472 (GRCm39)	missense	probably benign	0.02
Z1177:Fyttd1	UTSW	16	32,698,154 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GATTAGAGGACTAGGATTCTTGGATAC -3'
(R):5'- GGCTTGTGAATATTCTGAAGGAAAG -3'

Sequencing Primer
(F):5'- GAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- AGTTTCTTGAACTTCTCCGATGAAC -3'

Posted On

2022-09-12