Mutagenetix > Incidental Mutation

Incidental Mutation 'R3741:Fam135a'

270351

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

040727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R3741 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24050174-24139422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24053892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1215 (M1215K)

Ref Sequence

ENSEMBL: ENSMUSP00000139633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000186331] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]

AlphaFold

Q6NS59

Predicted Effect

probably benign
Transcript: ENSMUST00000027337
AA Change: M1428K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: M1428K

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	172	1.9e-19	PFAM
coiled coil region	270	295	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	842	853	N/A	INTRINSIC
low complexity region	1072	1085	N/A	INTRINSIC
Blast:LRRNT	1139	1172	4e-6	BLAST
low complexity region	1173	1184	N/A	INTRINSIC
Pfam:DUF676	1235	1431	9e-65	PFAM
Pfam:PGAP1	1237	1440	3.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186331

SMART Domains

Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153

Domain	Start	End	E-Value	Type
low complexity region	172	185	N/A	INTRINSIC
Blast:LRRNT	239	272	1e-6	BLAST
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187369
AA Change: M1232K

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: M1232K

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	173	3e-15	PFAM
coiled coil region	270	295	N/A	INTRINSIC
Pfam:DUF3657	312	369	1.2e-7	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	876	889	N/A	INTRINSIC
Blast:LRRNT	943	976	4e-6	BLAST
low complexity region	977	988	N/A	INTRINSIC
Pfam:DUF676	1039	1235	6.8e-62	PFAM
Pfam:PGAP1	1041	1259	8.1e-5	PFAM
Pfam:LCAT	1097	1203	2.3e-4	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000187619
AA Change: M192K

Predicted Effect

probably damaging
Transcript: ENSMUST00000187752
AA Change: M1215K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: M1215K

Domain	Start	End	E-Value	Type
Pfam:DUF3657	68	130	3e-15	PFAM
Pfam:DUF3657	295	352	1.2e-7	PFAM
low complexity region	629	640	N/A	INTRINSIC
low complexity region	859	872	N/A	INTRINSIC
Blast:LRRNT	926	959	4e-6	BLAST
low complexity region	960	971	N/A	INTRINSIC
Pfam:DUF676	1022	1218	6.7e-62	PFAM
Pfam:PGAP1	1024	1242	8e-5	PFAM
Pfam:LCAT	1080	1186	2.2e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188712

Meta Mutation Damage Score

0.5816

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	C	1: 139,406,357 (GRCm39)	V1748A	possibly damaging	Het
Atp10b	A	T	11: 43,126,489 (GRCm39)	S1082C	probably damaging	Het
Atp8b2	C	G	3: 89,853,338 (GRCm39)	A726P	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bbip1	T	C	19: 53,920,606 (GRCm39)	M1V	probably null	Het
Bbox1	A	G	2: 110,135,922 (GRCm39)	I19T	possibly damaging	Het
Bclaf3	T	A	X: 158,334,828 (GRCm39)	H41Q	probably benign	Het
Ctsm	T	A	13: 61,687,441 (GRCm39)	Q107L	probably benign	Het
Ctso	G	A	3: 81,859,556 (GRCm39)	V288I	probably benign	Het
Cyp2a4	A	C	7: 26,007,969 (GRCm39)	K125N	probably damaging	Het
Dapk1	T	C	13: 60,896,014 (GRCm39)	S701P	probably benign	Het
Dnah1	A	G	14: 30,987,424 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,095,076 (GRCm39)	M718T	probably benign	Het
Dnah2	C	A	11: 69,339,295 (GRCm39)	A3071S	probably damaging	Het
Epb41l4a	A	T	18: 33,961,155 (GRCm39)		probably null	Het
Gm6489	T	A	1: 31,326,764 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,284,976 (GRCm39)	Y443C	probably damaging	Het
Hoxc13	G	A	15: 102,829,873 (GRCm39)	G84D	possibly damaging	Het
Ifi207	T	C	1: 173,555,128 (GRCm39)	I851M	probably damaging	Het
Lipk	T	G	19: 33,999,107 (GRCm39)	L134R	probably damaging	Het
Mov10l1	A	G	15: 88,896,345 (GRCm39)	N678D	possibly damaging	Het
Msrb3	A	T	10: 120,620,119 (GRCm39)	F67I	probably damaging	Het
Myo1a	A	G	10: 127,550,767 (GRCm39)	D593G	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup210l	A	T	3: 90,114,701 (GRCm39)	M1759L	probably benign	Het
Optn	C	A	2: 5,039,009 (GRCm39)	M371I	possibly damaging	Het
Rims1	A	T	1: 22,443,667 (GRCm39)	V380D	probably damaging	Het
Rnf148	A	G	6: 23,654,064 (GRCm39)	C311R	possibly damaging	Het
Rrp12	T	C	19: 41,874,167 (GRCm39)	D377G	probably damaging	Het
Sbp	T	A	17: 24,164,556 (GRCm39)		probably benign	Het
Sipa1	T	C	19: 5,704,885 (GRCm39)	E570G	probably damaging	Het
Spem2	T	C	11: 69,707,556 (GRCm39)	R470G	possibly damaging	Het
Syngr4	T	C	7: 45,545,194 (GRCm39)	E5G	possibly damaging	Het
Tmem88b	A	G	4: 155,869,884 (GRCm39)	L59P	probably damaging	Het
Ttn	T	A	2: 76,620,703 (GRCm39)	K13995*	probably null	Het
Vmn1r69	A	G	7: 10,314,069 (GRCm39)	Y221H	possibly damaging	Het
Zfp386	T	A	12: 116,023,170 (GRCm39)	L296*	probably null	Het

Other mutations in Fam135a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Fam135a	APN	1	24,094,979 (GRCm39)	missense	probably damaging	1.00
IGL01993:Fam135a	APN	1	24,094,992 (GRCm39)	missense	probably damaging	0.99
IGL02172:Fam135a	APN	1	24,063,861 (GRCm39)	critical splice donor site	probably null
IGL02832:Fam135a	APN	1	24,067,714 (GRCm39)	missense	probably benign	0.00
IGL03075:Fam135a	APN	1	24,069,987 (GRCm39)	splice site	probably benign
IGL03197:Fam135a	APN	1	24,083,263 (GRCm39)	missense	probably damaging	1.00
IGL03214:Fam135a	APN	1	24,092,357 (GRCm39)	missense	probably damaging	1.00
IGL03355:Fam135a	APN	1	24,068,249 (GRCm39)	missense	possibly damaging	0.93
PIT4434001:Fam135a	UTSW	1	24,068,276 (GRCm39)	missense	probably benign
R0276:Fam135a	UTSW	1	24,107,045 (GRCm39)	missense	probably damaging	1.00
R1429:Fam135a	UTSW	1	24,083,348 (GRCm39)	missense	probably damaging	1.00
R1553:Fam135a	UTSW	1	24,060,951 (GRCm39)	missense	probably damaging	0.97
R1582:Fam135a	UTSW	1	24,068,398 (GRCm39)	missense	probably damaging	1.00
R1686:Fam135a	UTSW	1	24,068,887 (GRCm39)	missense	probably benign	0.05
R1732:Fam135a	UTSW	1	24,065,734 (GRCm39)	missense	possibly damaging	0.71
R1859:Fam135a	UTSW	1	24,069,306 (GRCm39)	missense	probably damaging	1.00
R1954:Fam135a	UTSW	1	24,068,683 (GRCm39)	missense	probably damaging	1.00
R2266:Fam135a	UTSW	1	24,067,878 (GRCm39)	missense	probably benign	0.22
R2570:Fam135a	UTSW	1	24,061,045 (GRCm39)	missense	probably damaging	1.00
R3725:Fam135a	UTSW	1	24,096,515 (GRCm39)	nonsense	probably null
R3740:Fam135a	UTSW	1	24,053,892 (GRCm39)	missense	probably damaging	0.99
R3765:Fam135a	UTSW	1	24,094,958 (GRCm39)	missense	possibly damaging	0.95
R3792:Fam135a	UTSW	1	24,067,392 (GRCm39)	missense	probably benign	0.14
R3940:Fam135a	UTSW	1	24,096,556 (GRCm39)	missense	probably damaging	0.98
R3946:Fam135a	UTSW	1	24,069,475 (GRCm39)	missense	probably damaging	0.96
R4754:Fam135a	UTSW	1	24,067,835 (GRCm39)	nonsense	probably null
R4794:Fam135a	UTSW	1	24,068,241 (GRCm39)	missense	probably benign	0.36
R4887:Fam135a	UTSW	1	24,063,334 (GRCm39)	nonsense	probably null
R4891:Fam135a	UTSW	1	24,069,409 (GRCm39)	missense	probably benign	0.00
R4929:Fam135a	UTSW	1	24,069,081 (GRCm39)	missense	probably benign	0.16
R4999:Fam135a	UTSW	1	24,059,758 (GRCm39)	missense	possibly damaging	0.83
R5092:Fam135a	UTSW	1	24,067,888 (GRCm39)	missense	probably benign	0.11
R5205:Fam135a	UTSW	1	24,068,592 (GRCm39)	missense	probably benign	0.05
R5313:Fam135a	UTSW	1	24,067,666 (GRCm39)	missense	possibly damaging	0.89
R5579:Fam135a	UTSW	1	24,068,808 (GRCm39)	missense	possibly damaging	0.93
R5689:Fam135a	UTSW	1	24,068,134 (GRCm39)	missense	probably benign	0.22
R5863:Fam135a	UTSW	1	24,053,863 (GRCm39)	missense	possibly damaging	0.94
R5869:Fam135a	UTSW	1	24,068,511 (GRCm39)	missense	possibly damaging	0.53
R6128:Fam135a	UTSW	1	24,069,821 (GRCm39)	critical splice donor site	probably null
R6505:Fam135a	UTSW	1	24,053,953 (GRCm39)	missense	probably damaging	1.00
R6668:Fam135a	UTSW	1	24,067,929 (GRCm39)	missense	probably damaging	0.99
R6793:Fam135a	UTSW	1	24,107,006 (GRCm39)	missense	possibly damaging	0.69
R6857:Fam135a	UTSW	1	24,053,870 (GRCm39)	missense	probably damaging	0.99
R6931:Fam135a	UTSW	1	24,124,568 (GRCm39)	start codon destroyed	probably damaging	1.00
R6977:Fam135a	UTSW	1	24,093,179 (GRCm39)	missense	probably damaging	1.00
R7187:Fam135a	UTSW	1	24,083,295 (GRCm39)	missense	probably damaging	1.00
R7206:Fam135a	UTSW	1	24,069,354 (GRCm39)	missense	probably benign	0.14
R7305:Fam135a	UTSW	1	24,069,939 (GRCm39)	missense	probably damaging	1.00
R7313:Fam135a	UTSW	1	24,096,473 (GRCm39)	missense	probably damaging	0.98
R7420:Fam135a	UTSW	1	24,051,567 (GRCm39)	missense	possibly damaging	0.68
R7646:Fam135a	UTSW	1	24,067,704 (GRCm39)	missense	probably benign	0.06
R7661:Fam135a	UTSW	1	24,111,843 (GRCm39)	splice site	probably null
R7681:Fam135a	UTSW	1	24,106,996 (GRCm39)	missense	probably benign	0.03
R7748:Fam135a	UTSW	1	24,068,050 (GRCm39)	missense	probably benign	0.00
R7845:Fam135a	UTSW	1	24,068,738 (GRCm39)	missense	probably benign	0.27
R7849:Fam135a	UTSW	1	24,083,331 (GRCm39)	missense	probably damaging	1.00
R7914:Fam135a	UTSW	1	24,065,760 (GRCm39)	missense	probably damaging	1.00
R8236:Fam135a	UTSW	1	24,059,729 (GRCm39)	splice site	probably null
R8314:Fam135a	UTSW	1	24,061,002 (GRCm39)	missense	possibly damaging	0.84
R8403:Fam135a	UTSW	1	24,067,908 (GRCm39)	missense	probably benign	0.21
R8416:Fam135a	UTSW	1	24,067,675 (GRCm39)	missense	probably benign	0.11
R8420:Fam135a	UTSW	1	24,067,569 (GRCm39)	missense	probably benign	0.24
R8423:Fam135a	UTSW	1	24,060,998 (GRCm39)	missense	probably damaging	0.99
R8745:Fam135a	UTSW	1	24,067,569 (GRCm39)	missense	probably benign	0.24
R8754:Fam135a	UTSW	1	24,067,569 (GRCm39)	missense	probably benign	0.24
R8994:Fam135a	UTSW	1	24,067,621 (GRCm39)	missense	probably damaging	1.00
X0022:Fam135a	UTSW	1	24,069,295 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTCACATATCAGGAGGGG -3'
(R):5'- GGATTTCTCCTAGATTGCAGATTGC -3'

Sequencing Primer
(F):5'- CTCACATATCAGGAGGGGAAACTG -3'
(R):5'- CAGATTGCATACATTGAAACAGGC -3'

Posted On

2015-03-18