Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03123:Frmd7'

410034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmd7

Ensembl Gene

ENSMUSG00000036131

Gene Name

FERM domain containing 7

Synonyms

LOC385354, EG665849

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03123

Quality Score

Status

Chromosome

Chromosomal Location

49984057-50031587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49984835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 445 (T445I)

Ref Sequence

ENSEMBL: ENSMUSP00000057103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033444] [ENSMUST00000060650] [ENSMUST00000114887] [ENSMUST00000164311]

AlphaFold

A2AD83

Predicted Effect

probably benign
Transcript: ENSMUST00000033444

SMART Domains

Protein: ENSMUSP00000033444
Gene: ENSMUSG00000031112

Domain	Start	End	E-Value	Type
S_TKc	24	274	1.07e-96	SMART
low complexity region	300	318	N/A	INTRINSIC
PDB:4GEH\|D	325	413	2e-54	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000060650
AA Change: T445I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057103
Gene: ENSMUSG00000036131
AA Change: T445I

Domain	Start	End	E-Value	Type
B41	1	192	1.3e-53	SMART
FERM_C	196	286	2.35e-31	SMART
FA	290	336	1.46e-9	SMART
low complexity region	637	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114887

SMART Domains

Protein: ENSMUSP00000110537
Gene: ENSMUSG00000031112

Domain	Start	End	E-Value	Type
S_TKc	24	274	1.07e-96	SMART
low complexity region	300	318	N/A	INTRINSIC
PDB:4GEH\|D	325	389	1e-31	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146956

Predicted Effect

probably benign
Transcript: ENSMUST00000164311

SMART Domains

Protein: ENSMUSP00000126628
Gene: ENSMUSG00000036131

Domain	Start	End	E-Value	Type
Pfam:FERM_N	6	85	8.3e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
Caprin2	G	T	6: 148,796,505 (GRCm39)	A36E	probably damaging	Het
Castor1	A	T	11: 4,170,278 (GRCm39)	T119S	probably damaging	Het
Dnase1l2	T	C	17: 24,661,226 (GRCm39)	M28V	possibly damaging	Het
Eci1	T	A	17: 24,655,300 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,855 (GRCm39)	S178T	probably damaging	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Exoc3l4	A	G	12: 111,388,547 (GRCm39)	E12G	probably damaging	Het
Golga4	A	G	9: 118,365,953 (GRCm39)	E344G	probably damaging	Het
H2-M10.4	A	G	17: 36,772,812 (GRCm39)	Y57H	probably damaging	Het
Hnmt	T	C	2: 23,909,171 (GRCm39)	I81V	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Htra3	C	T	5: 35,823,477 (GRCm39)	V280I	probably damaging	Het
Impg2	G	T	16: 56,087,485 (GRCm39)	E992D	probably damaging	Het
Kctd4	T	C	14: 76,200,418 (GRCm39)	W130R	possibly damaging	Het
Kdm3b	T	A	18: 34,942,544 (GRCm39)		probably null	Het
Kmt2d	G	A	15: 98,759,652 (GRCm39)	T1202M	unknown	Het
Lrp11	A	T	10: 7,478,689 (GRCm39)	D326V	probably damaging	Het
Lrrcc1	A	T	3: 14,601,144 (GRCm39)	I59F	probably damaging	Het
Lyg2	G	A	1: 37,954,845 (GRCm39)		probably benign	Het
Med16	A	G	10: 79,732,667 (GRCm39)	V699A	probably damaging	Het
Myo18b	G	T	5: 113,022,804 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,531,767 (GRCm39)	T744A	probably damaging	Het
Or1e1f	T	A	11: 73,855,812 (GRCm39)	I126N	probably damaging	Het
Oser1	A	T	2: 163,253,309 (GRCm39)		probably benign	Het
Pcdhgc5	T	C	18: 37,952,966 (GRCm39)	V80A	probably benign	Het
Pi4ka	C	T	16: 17,100,539 (GRCm39)	G1857D	possibly damaging	Het
Pitpnc1	C	T	11: 107,228,237 (GRCm39)		probably null	Het
Pofut2	A	G	10: 77,102,844 (GRCm39)	E137G	probably benign	Het
Rgsl1	A	T	1: 153,701,687 (GRCm39)	W291R	probably damaging	Het
Rnf113a2	T	C	12: 84,465,050 (GRCm39)	I314T	probably benign	Het
Rps2	C	T	17: 24,939,263 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,224 (GRCm39)	K1148E	probably damaging	Het
Slc45a2	A	G	15: 11,012,741 (GRCm39)	D248G	probably benign	Het
Slit2	G	T	5: 48,368,681 (GRCm39)	R352L	probably damaging	Het
Smg1	A	G	7: 117,756,404 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 177,994,272 (GRCm39)	C1217*	probably null	Het
Tbcb	A	G	7: 29,926,261 (GRCm39)		probably benign	Het
Tinf2	T	C	14: 55,918,346 (GRCm39)	D128G	probably damaging	Het
Traf3ip2	A	G	10: 39,515,218 (GRCm39)	D332G	possibly damaging	Het
Tram1	A	G	1: 13,659,829 (GRCm39)	F40L	probably benign	Het
Trank1	A	T	9: 111,196,475 (GRCm39)	I1500L	probably damaging	Het
Wdfy4	G	A	14: 32,884,827 (GRCm39)	P25L	probably benign	Het
Wnt5a	G	T	14: 28,244,882 (GRCm39)	Q376H	probably damaging	Het
Zfp526	A	C	7: 24,924,049 (GRCm39)	T103P	probably benign	Het

Other mutations in Frmd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02397:Frmd7	APN	X	49,984,775 (GRCm39)	missense	possibly damaging	0.81
Z1088:Frmd7	UTSW	X	49,985,024 (GRCm39)	missense	possibly damaging	0.80

Posted On

2016-08-02