Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Frmd5'

556898

Institutional Source

Beutler Lab

Gene Symbol

Frmd5

Ensembl Gene

ENSMUSG00000027238

Gene Name

FERM domain containing 5

Synonyms

1500032A09Rik, A930004K21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4812001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121376010-121637568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121416927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 70 (V70A)

Ref Sequence

ENSEMBL: ENSMUSP00000106223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110592] [ENSMUST00000110593] [ENSMUST00000121219] [ENSMUST00000128428] [ENSMUST00000138157] [ENSMUST00000145075] [ENSMUST00000155570]

AlphaFold

Q6P5H6

Predicted Effect

probably benign
Transcript: ENSMUST00000110592
AA Change: V78A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
AA Change: V78A

Domain	Start	End	E-Value	Type
B41	13	210	2.23e-61	SMART
FERM_C	214	302	6.86e-24	SMART
FA	308	354	1.45e-13	SMART
low complexity region	452	474	N/A	INTRINSIC
transmembrane domain	501	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110593
AA Change: V70A

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
AA Change: V70A

Domain	Start	End	E-Value	Type
B41	2	202	4.13e-56	SMART
FERM_C	206	294	6.86e-24	SMART
FA	300	346	1.45e-13	SMART
low complexity region	444	466	N/A	INTRINSIC
low complexity region	489	504	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121219

SMART Domains

Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
B41	1	121	1.92e-4	SMART
FERM_C	125	213	6.86e-24	SMART
FA	219	265	1.45e-13	SMART
low complexity region	363	385	N/A	INTRINSIC
transmembrane domain	412	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128428
AA Change: V78A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238
AA Change: V78A

Domain	Start	End	E-Value	Type
B41	13	202	3.21e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133898

SMART Domains

Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
B41	1	129	8.68e-9	SMART
FERM_C	133	221	6.86e-24	SMART
FA	227	273	1.45e-13	SMART
low complexity region	371	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138157
AA Change: V78A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
AA Change: V78A

Domain	Start	End	E-Value	Type
B41	13	210	2.23e-61	SMART
FERM_C	214	302	6.86e-24	SMART
FA	308	354	1.45e-13	SMART
low complexity region	452	474	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145075

SMART Domains

Protein: ENSMUSP00000122195
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
SCOP:d1gg3a3	19	37	6e-5	SMART
low complexity region	71	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155570
AA Change: V70A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
AA Change: V70A

Domain	Start	End	E-Value	Type
B41	2	202	4.13e-56	SMART
FERM_C	206	294	6.86e-24	SMART
FA	300	346	1.45e-13	SMART
low complexity region	444	466	N/A	INTRINSIC

Coding Region Coverage

1x: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm39)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,419,292 (GRCm39)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,761,260 (GRCm39)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,762,197 (GRCm39)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,181,396 (GRCm39)	T75A	probably damaging	Het
Atr	T	C	9: 95,792,702 (GRCm39)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,720,055 (GRCm39)	I1082V	probably benign	Het
Clip1	T	A	5: 123,768,738 (GRCm39)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,293 (GRCm39)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,602,833 (GRCm39)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,176,744 (GRCm39)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,665,703 (GRCm39)	F687I	probably benign	Het
Dnah8	C	A	17: 30,927,419 (GRCm39)	D1358E	probably benign	Het
Dnajc11	A	G	4: 152,037,346 (GRCm39)	R84G	probably benign	Het
Dnajc14	C	A	10: 128,642,552 (GRCm39)	T158N	probably damaging	Het
Dscc1	A	G	15: 54,945,657 (GRCm39)	L346P	probably damaging	Het
Efcab3	A	G	11: 104,990,805 (GRCm39)	I71V	probably null	Het
Erbb3	T	A	10: 128,410,248 (GRCm39)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 12,962,311 (GRCm39)	E652K	probably benign	Het
Ercc6l2	T	A	13: 64,006,071 (GRCm39)	V591D	possibly damaging	Het
Fam3c	C	T	6: 22,321,369 (GRCm39)	G134E	probably damaging	Het
Gjd3	A	T	11: 102,691,807 (GRCm39)	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm39)	A771S	probably damaging	Het
Hc	A	G	2: 34,919,464 (GRCm39)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hycc2	T	G	1: 58,587,862 (GRCm39)	D117A	possibly damaging	Het
Inpp5f	A	T	7: 128,294,032 (GRCm39)	Y696F	probably benign	Het
Itga11	C	A	9: 62,639,475 (GRCm39)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,740,357 (GRCm39)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,185,938 (GRCm39)	G264S	probably benign	Het
Krt78	C	T	15: 101,856,504 (GRCm39)	V436M	probably damaging	Het
Mia2	A	T	12: 59,148,365 (GRCm39)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 118,525,888 (GRCm39)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,237,304 (GRCm39)	P630S	possibly damaging	Het
Or2c1	A	T	16: 3,657,394 (GRCm39)	K186*	probably null	Het
Or4c11	G	A	2: 88,695,314 (GRCm39)	V122M	probably benign	Het
Or5an9	T	G	19: 12,187,617 (GRCm39)	I229S	probably damaging	Het
Pbx3	T	C	2: 34,114,631 (GRCm39)	E101G	probably damaging	Het
Pcca	T	A	14: 123,027,794 (GRCm39)	N587K	probably benign	Het
Pdia3	G	T	2: 121,264,011 (GRCm39)	A287S	probably damaging	Het
Pfas	T	A	11: 68,880,862 (GRCm39)	D209V		Het
Pramel29	A	G	4: 143,936,086 (GRCm39)	I56T	probably benign	Het
Pter	A	T	2: 12,985,179 (GRCm39)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,502,428 (GRCm39)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Rbm19	T	C	5: 120,266,315 (GRCm39)	V446A	possibly damaging	Het
Selp	A	G	1: 163,959,832 (GRCm39)	N363D	probably benign	Het
Six2	C	A	17: 85,992,729 (GRCm39)	S258I	possibly damaging	Het
Smc1b	A	G	15: 84,953,852 (GRCm39)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,316,843 (GRCm39)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,816,889 (GRCm39)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,176,980 (GRCm39)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,973,635 (GRCm39)	D794E	probably benign	Het
Usp32	C	T	11: 84,900,900 (GRCm39)	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,463,033 (GRCm39)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,434,060 (GRCm39)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,800,447 (GRCm39)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,375,356 (GRCm39)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,251,661 (GRCm39)	C80*	probably null	Het
Zic1	A	T	9: 91,246,394 (GRCm39)	I226N	probably damaging	Het

Other mutations in Frmd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03025:Frmd5	APN	2	121,383,825 (GRCm39)	missense	probably benign
big_rip	UTSW	2	121,379,699 (GRCm39)	nonsense	probably null
R0385:Frmd5	UTSW	2	121,386,055 (GRCm39)	missense	probably damaging	1.00
R1667:Frmd5	UTSW	2	121,379,211 (GRCm39)	frame shift	probably null
R4243:Frmd5	UTSW	2	121,393,363 (GRCm39)	splice site	probably null
R4590:Frmd5	UTSW	2	121,595,512 (GRCm39)	splice site	probably null
R4705:Frmd5	UTSW	2	121,393,344 (GRCm39)	intron	probably benign
R4909:Frmd5	UTSW	2	121,422,134 (GRCm39)	splice site	probably null
R4935:Frmd5	UTSW	2	121,393,405 (GRCm39)	missense	possibly damaging	0.75
R5008:Frmd5	UTSW	2	121,379,341 (GRCm39)	missense	probably damaging	1.00
R5095:Frmd5	UTSW	2	121,379,402 (GRCm39)	missense	possibly damaging	0.95
R5431:Frmd5	UTSW	2	121,393,390 (GRCm39)	missense	probably damaging	1.00
R5875:Frmd5	UTSW	2	121,388,959 (GRCm39)	intron	probably benign
R6246:Frmd5	UTSW	2	121,381,529 (GRCm39)	missense	possibly damaging	0.66
R6404:Frmd5	UTSW	2	121,379,699 (GRCm39)	nonsense	probably null
R7039:Frmd5	UTSW	2	121,378,128 (GRCm39)	unclassified	probably benign
R7072:Frmd5	UTSW	2	121,388,351 (GRCm39)	missense	probably damaging	0.97
R7520:Frmd5	UTSW	2	121,384,745 (GRCm39)	critical splice donor site	probably null
R7804:Frmd5	UTSW	2	121,422,225 (GRCm39)	missense	probably damaging	0.99
R8302:Frmd5	UTSW	2	121,378,060 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCCTCTCAAGATAACTGGGAAC -3'
(R):5'- TAGTTCAGAGCATGGCTTCCC -3'

Sequencing Primer
(F):5'- TGAGGACCCAGGTTCAATTC -3'
(R):5'- AGAGCATGGCTTCCCTCTCTAAAC -3'

Posted On

2019-06-07