Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03214:Fam135a'

413429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03214

Quality Score

Status

Chromosome

Chromosomal Location

24050174-24139422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24092357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 201 (L201F)

Ref Sequence

ENSEMBL: ENSMUSP00000139633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]

AlphaFold

Q6NS59

Predicted Effect

probably damaging
Transcript: ENSMUST00000027337
AA Change: L244F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: L244F

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

noncoding transcript
Transcript: ENSMUST00000185525

Predicted Effect

probably damaging
Transcript: ENSMUST00000186999
AA Change: L244F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: L244F

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	173	1.8e-15	PFAM
Pfam:DUF3657	338	395	7.3e-8	PFAM
low complexity region	672	683	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187369
AA Change: L244F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: L244F

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

probably damaging
Transcript: ENSMUST00000187752
AA Change: L201F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: L201F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	C	11: 7,117,054 (GRCm39)		probably benign	Het
Asb5	T	C	8: 55,038,098 (GRCm39)	V207A	probably benign	Het
Atxn3	G	T	12: 101,912,181 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,839,100 (GRCm39)	D857G	probably benign	Het
Cacna1i	A	G	15: 80,239,917 (GRCm39)	N322S	probably benign	Het
Ccn6	T	C	10: 39,029,163 (GRCm39)	N255S	probably benign	Het
Dcun1d1	A	T	3: 35,973,220 (GRCm39)	W92R	probably damaging	Het
Dnah7a	A	C	1: 53,561,368 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,086,896 (GRCm39)	D581G	probably benign	Het
Gm14496	T	G	2: 181,642,329 (GRCm39)	L667V	probably damaging	Het
Grk4	T	A	5: 34,909,553 (GRCm39)	M539K	probably benign	Het
Itpr2	A	G	6: 146,081,742 (GRCm39)	V2261A	probably benign	Het
Krtap5-2	A	G	7: 141,728,751 (GRCm39)	S310P	unknown	Het
Mme	A	T	3: 63,237,111 (GRCm39)	Y232F	possibly damaging	Het
Mtmr4	T	C	11: 87,488,519 (GRCm39)	Y58H	probably damaging	Het
Myh13	T	C	11: 67,244,411 (GRCm39)	S983P	possibly damaging	Het
Nbas	A	G	12: 13,381,111 (GRCm39)		probably benign	Het
Neb	C	T	2: 52,049,560 (GRCm39)	G6428R	probably damaging	Het
Neb	T	A	2: 52,087,856 (GRCm39)	T5448S	possibly damaging	Het
Or2ag17	T	A	7: 106,389,552 (GRCm39)	I219L	probably benign	Het
Or2t1	A	T	14: 14,328,284 (GRCm38)	M58L	probably damaging	Het
Or52ab7	G	T	7: 102,977,873 (GRCm39)	S60I	possibly damaging	Het
Or5l13	T	A	2: 87,780,415 (GRCm39)	Q54L	probably benign	Het
Or5p52	T	C	7: 107,502,173 (GRCm39)	M83T	probably benign	Het
Otx2	A	G	14: 48,898,781 (GRCm39)	I75T	probably damaging	Het
Phex	A	T	X: 155,960,500 (GRCm39)	N681K	probably damaging	Het
Plekha8	C	A	6: 54,612,755 (GRCm39)	A454E	probably damaging	Het
Rbfa	C	A	18: 80,240,506 (GRCm39)	K152N	probably benign	Het
Satb2	C	A	1: 56,884,739 (GRCm39)	S513I	probably damaging	Het
Slc4a2	G	T	5: 24,639,879 (GRCm39)	R520L	probably benign	Het
Slfn14	T	C	11: 83,169,826 (GRCm39)	H606R	probably benign	Het
Smc1b	G	A	15: 84,982,147 (GRCm39)	Q716*	probably null	Het
Syncrip	C	T	9: 88,346,696 (GRCm39)		probably benign	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Vps13c	C	T	9: 67,804,477 (GRCm39)	A762V	probably null	Het
Wdr64	C	A	1: 175,571,201 (GRCm39)		probably benign	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
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
R3741: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

Posted On

2016-08-02