Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Frmd6'

70198

Institutional Source

Beutler Lab

Gene Symbol

Frmd6

Ensembl Gene

ENSMUSG00000048285

Gene Name

FERM domain containing 6

Synonyms

4930488L10Rik, 2610019M19Rik

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70872288-70949008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70910830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 5 (T5A)

Ref Sequence

ENSEMBL: ENSMUSP00000052202 (fasta)

Gene Model

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

AlphaFold

Q8C0V9

Predicted Effect

probably benign
Transcript: ENSMUST00000057859
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
AA Change: T5A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222802

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dpep3	C	T	8: 106,704,018 (GRCm39)	A267T	probably benign	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Gnb5	G	A	9: 75,218,752 (GRCm39)	V26I	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pgap2	C	A	7: 101,886,343 (GRCm39)	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psmc3	A	G	2: 90,884,645 (GRCm39)	E18G	probably benign	Het
Psme3	T	G	11: 101,207,872 (GRCm39)	M9R	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Tet2	T	G	3: 133,173,231 (GRCm39)	H1677P	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	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
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
R6781:Frmd6	UTSW	12	70,946,417 (GRCm39)	missense	possibly damaging	0.68
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'- AATAGTTGTGTGCCACTGGCCTC -3'
(R):5'- TGGCAGCAATGATCTAACCCTGAAC -3'

Sequencing Primer
(F):5'- AGGTCTCCCAGTGGACTTTC -3'
(R):5'- TGAACCACCTCACCTAACGTG -3'

Posted On

2013-09-30