Mutagenetix > Incidental Mutation

Incidental Mutation 'R6781:Frmd6'

531429

Institutional Source

Beutler Lab

Gene Symbol

Frmd6

Ensembl Gene

ENSMUSG00000048285

Gene Name

FERM domain containing 6

Synonyms

4930488L10Rik, 2610019M19Rik

MMRRC Submission

044895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6781 (G1)

Quality Score

96.0077

Status

Validated

Chromosome

Chromosomal Location

70872288-70949008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70946417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 615 (D615G)

Ref Sequence

ENSEMBL: ENSMUSP00000052202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057859]

AlphaFold

Q8C0V9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057859
AA Change: D615G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
AA Change: D615G

Domain	Start	End	E-Value	Type
B41	13	234	2.41e-25	SMART
FERM_C	241	332	9.63e-19	SMART
low complexity region	365	375	N/A	INTRINSIC
low complexity region	382	395	N/A	INTRINSIC
low complexity region	425	442	N/A	INTRINSIC
low complexity region	506	512	N/A	INTRINSIC

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,593,380 (GRCm39)	I259N	possibly damaging	Het
Acot12	G	T	13: 91,932,531 (GRCm39)		probably null	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,162 (GRCm39)	L195P	probably damaging	Het
Aox4	A	T	1: 58,284,268 (GRCm39)	D556V	probably benign	Het
Arhgef40	A	C	14: 52,235,354 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,558,674 (GRCm39)	V63A	probably benign	Het
Bicd1	T	C	6: 149,414,664 (GRCm39)	I459T	possibly damaging	Het
Bub1	C	A	2: 127,649,777 (GRCm39)	G694W	probably damaging	Het
C4b	A	T	17: 34,961,928 (GRCm39)	I106N	probably damaging	Het
Clca4b	T	C	3: 144,628,562 (GRCm39)	I382V	probably benign	Het
Cntnap5a	A	C	1: 116,220,127 (GRCm39)	S646R	probably benign	Het
Cntnap5c	C	T	17: 58,445,648 (GRCm39)	Q563*	probably null	Het
Cpn1	A	G	19: 43,969,343 (GRCm39)	F107L	possibly damaging	Het
Csrnp3	T	A	2: 65,852,615 (GRCm39)	C336S	probably benign	Het
Defa3	T	A	8: 21,778,277 (GRCm39)	M87K	probably benign	Het
Dennd2b	T	C	7: 109,124,511 (GRCm39)	D1110G	possibly damaging	Het
Dmbt1	T	C	7: 130,648,291 (GRCm39)	F274L	probably benign	Het
Dnah8	TTA	TTATA	17: 30,984,698 (GRCm39)		probably null	Het
Dnase2b	T	C	3: 146,288,126 (GRCm39)	H323R	probably benign	Het
Fam83e	A	T	7: 45,371,571 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,158,958 (GRCm39)	N2269S	probably damaging	Het
Foxa1	A	T	12: 57,590,043 (GRCm39)	M59K	possibly damaging	Het
Fpr3	T	C	17: 18,190,978 (GRCm39)	V83A	probably benign	Het
Gfra3	T	C	18: 34,844,375 (GRCm39)	K55R	possibly damaging	Het
Gm5414	A	T	15: 101,534,096 (GRCm39)	S296T	possibly damaging	Het
Gtf3c1	T	A	7: 125,258,369 (GRCm39)	K1234*	probably null	Het
Hltf	T	A	3: 20,152,330 (GRCm39)	Y609N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift74	A	G	4: 94,515,539 (GRCm39)	D152G	probably damaging	Het
Kcnk6	T	C	7: 28,924,480 (GRCm39)	Y308C	probably damaging	Het
Klhl29	A	G	12: 5,141,347 (GRCm39)	S546P	probably damaging	Het
Map7d1	AGGGCAGCC	AGGGCAGCCGGGCAGCC	4: 126,134,544 (GRCm39)		probably null	Het
Meis2	T	A	2: 115,879,636 (GRCm39)	H228L	probably benign	Het
Mfsd10	A	T	5: 34,791,853 (GRCm39)	M344K	possibly damaging	Het
Mrps33	T	C	6: 39,782,757 (GRCm39)		probably benign	Het
Or2a52	A	G	6: 43,144,322 (GRCm39)	E110G	probably damaging	Het
Or4p23	A	T	2: 88,577,174 (GRCm39)	N19K	probably benign	Het
Pik3cb	T	C	9: 98,923,045 (GRCm39)	T996A	possibly damaging	Het
Plekha7	A	G	7: 115,757,090 (GRCm39)		probably null	Het
Ppp1cb	A	G	5: 32,638,106 (GRCm39)	Y86C	probably damaging	Het
Sass6	T	G	3: 116,388,773 (GRCm39)		probably benign	Het
Slc6a15	A	T	10: 103,230,928 (GRCm39)	I218F	probably damaging	Het
Tcf23	C	T	5: 31,126,304 (GRCm39)	P61L	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zc3h6	T	C	2: 128,857,341 (GRCm39)	F620S	probably damaging	Het

Other mutations in Frmd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0629:Frmd6	UTSW	12	70,930,536 (GRCm39)	missense	probably damaging	1.00
R0662:Frmd6	UTSW	12	70,946,218 (GRCm39)	nonsense	probably null
R0747:Frmd6	UTSW	12	70,910,830 (GRCm39)	missense	probably benign
R1144:Frmd6	UTSW	12	70,923,942 (GRCm39)	missense	probably damaging	1.00
R1366:Frmd6	UTSW	12	70,934,663 (GRCm39)	splice site	probably benign
R1763:Frmd6	UTSW	12	70,940,396 (GRCm39)	missense	possibly damaging	0.90
R2135:Frmd6	UTSW	12	70,941,771 (GRCm39)	missense	probably benign	0.00
R2342:Frmd6	UTSW	12	70,930,592 (GRCm39)	nonsense	probably null
R3963:Frmd6	UTSW	12	70,940,638 (GRCm39)	missense	probably benign	0.00
R3982:Frmd6	UTSW	12	70,934,608 (GRCm39)	missense	probably damaging	1.00
R4010:Frmd6	UTSW	12	70,946,327 (GRCm39)	missense	probably benign
R4416:Frmd6	UTSW	12	70,924,023 (GRCm39)	missense	probably benign	0.04
R4823:Frmd6	UTSW	12	70,919,349 (GRCm39)	missense	probably benign	0.22
R4861:Frmd6	UTSW	12	70,940,500 (GRCm39)	missense	probably damaging	0.98
R5368:Frmd6	UTSW	12	70,910,874 (GRCm39)	nonsense	probably null
R5806:Frmd6	UTSW	12	70,936,794 (GRCm39)	missense	probably damaging	1.00
R6226:Frmd6	UTSW	12	70,910,685 (GRCm39)	start gained	probably benign
R6253:Frmd6	UTSW	12	70,923,987 (GRCm39)	missense	probably damaging	0.99
R7051:Frmd6	UTSW	12	70,944,170 (GRCm39)	missense	possibly damaging	0.78
R7156:Frmd6	UTSW	12	70,923,983 (GRCm39)	missense	probably damaging	1.00
R7481:Frmd6	UTSW	12	70,933,829 (GRCm39)	missense	probably damaging	1.00
R8888:Frmd6	UTSW	12	70,940,646 (GRCm39)	missense	possibly damaging	0.83
R9368:Frmd6	UTSW	12	70,933,865 (GRCm39)	critical splice donor site	probably null
U24488:Frmd6	UTSW	12	70,940,653 (GRCm39)	missense	probably damaging	0.97
X0022:Frmd6	UTSW	12	70,910,882 (GRCm39)	missense	probably damaging	1.00
Z1088:Frmd6	UTSW	12	70,927,452 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCTTGACGACATCAGACTGTAC -3'
(R):5'- AAAGTGCAACTGTCCCAAGGC -3'

Sequencing Primer
(F):5'- TGTACCAGAAAGACTTCCTGCG -3'
(R):5'- GCAACTGTCCCAAGGCTTTTG -3'

Posted On

2018-08-29