Mutagenetix > Incidental Mutation

Incidental Mutation 'R7313:Fam135a'

567700

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

045411-MU

Accession Numbers

Essential gene?

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

Stock #

R7313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24050174-24139422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24096473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 91 (V91F)

Ref Sequence

ENSEMBL: ENSMUSP00000027337 (fasta)

Gene Model

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

AlphaFold

Q6NS59

Predicted Effect

probably damaging
Transcript: ENSMUST00000027337
AA Change: V91F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: V91F

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

possibly damaging
Transcript: ENSMUST00000186999
AA Change: V91F

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: V91F

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: V91F

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

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: V91F

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: V48F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: V48F

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 damaging
Transcript: ENSMUST00000188712
AA Change: V91F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,773,187 (GRCm39)	N805S	probably damaging	Het
Acat2	A	G	17: 13,178,893 (GRCm39)	V60A	probably benign	Het
Adam6b	A	G	12: 113,454,754 (GRCm39)	I524V	probably benign	Het
Adamts16	C	T	13: 70,921,074 (GRCm39)	W590*	probably null	Het
Adamts9	C	T	6: 92,835,102 (GRCm39)	G1257D	probably damaging	Het
Adgrf5	C	T	17: 43,755,974 (GRCm39)	T644I	probably benign	Het
Adgrf5	T	G	17: 43,763,368 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,668,634 (GRCm39)	T2641A	possibly damaging	Het
Agap3	T	C	5: 24,657,382 (GRCm39)	F60L	probably benign	Het
Akap9	C	A	5: 4,054,933 (GRCm39)	T1626K	probably damaging	Het
Ampd3	C	A	7: 110,405,261 (GRCm39)	D603E	probably damaging	Het
Angpt4	T	A	2: 151,767,326 (GRCm39)	V119E	probably benign	Het
Atp6v1a	T	C	16: 43,934,980 (GRCm39)	T70A	probably benign	Het
B4galt3	T	A	1: 171,100,319 (GRCm39)	I163N	probably damaging	Het
Borcs5	C	T	6: 134,687,143 (GRCm39)	T167M	probably damaging	Het
Btbd19	T	A	4: 116,978,616 (GRCm39)	S156C	probably damaging	Het
Camkk2	C	T	5: 122,875,574 (GRCm39)	R492Q	possibly damaging	Het
Casr	T	C	16: 36,330,033 (GRCm39)	I434V	probably damaging	Het
Cd4	G	T	6: 124,844,066 (GRCm39)	T394K	probably benign	Het
Cps1	T	C	1: 67,237,517 (GRCm39)	L1006P	probably damaging	Het
Crx	G	A	7: 15,601,857 (GRCm39)	P274S	probably damaging	Het
Crybg1	T	A	10: 43,865,107 (GRCm39)	I1457F	probably damaging	Het
Cul4a	C	A	8: 13,171,676 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 104,085,910 (GRCm39)	T196S	probably benign	Het
Dnah3	T	C	7: 119,580,567 (GRCm39)	E1995G	probably benign	Het
Dnm1	T	A	2: 32,226,021 (GRCm39)	T353S	probably damaging	Het
Ect2l	T	A	10: 18,044,149 (GRCm39)	T329S	probably damaging	Het
Elp2	T	A	18: 24,742,716 (GRCm39)	S83T	probably benign	Het
Exosc7	A	G	9: 122,948,013 (GRCm39)	T39A	probably benign	Het
Gab2	G	T	7: 96,731,005 (GRCm39)		probably benign	Het
Gbf1	A	T	19: 46,268,793 (GRCm39)	I1408F	possibly damaging	Het
Glis3	C	T	19: 28,508,419 (GRCm39)	E522K	probably damaging	Het
Gm10375	A	T	14: 43,842,314 (GRCm39)	C139S	possibly damaging	Het
Gm26558	T	C	2: 70,492,211 (GRCm39)	E81G	unknown	Het
Gm35315	C	T	5: 110,227,091 (GRCm39)	C116Y	probably benign	Het
Gm3676	T	A	14: 41,366,064 (GRCm39)	I84F	probably damaging	Het
Gm7145	T	A	1: 117,913,932 (GRCm39)	H271Q	probably damaging	Het
Gpat2	T	A	2: 127,270,215 (GRCm39)	I76N	probably damaging	Het
Hipk1	A	T	3: 103,685,574 (GRCm39)	S14T	unknown	Het
Hlcs	C	A	16: 94,068,362 (GRCm39)	S286I	probably damaging	Het
Ighg1	A	T	12: 113,293,078 (GRCm39)	F204Y		Het
Igsf10	T	C	3: 59,236,837 (GRCm39)	I1115V	probably benign	Het
Klk7	A	T	7: 43,462,299 (GRCm39)	H97L	probably damaging	Het
Kmt2d	A	T	15: 98,754,504 (GRCm39)	D1605E	unknown	Het
Leng8	T	A	7: 4,142,525 (GRCm39)	I49N	possibly damaging	Het
Lingo4	A	T	3: 94,310,451 (GRCm39)	D463V	possibly damaging	Het
Lrp1	T	A	10: 127,389,337 (GRCm39)	N3193I	probably damaging	Het
Lrrc7	T	A	3: 157,866,111 (GRCm39)	Y1210F	probably damaging	Het
Mki67	G	C	7: 135,296,400 (GRCm39)	A2878G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtcl3	T	A	10: 29,072,875 (GRCm39)	Y722*	probably null	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Myh6	A	T	14: 55,197,727 (GRCm39)	D470E	probably benign	Het
Myo1e	T	C	9: 70,266,667 (GRCm39)		probably null	Het
Myo7a	G	A	7: 97,713,402 (GRCm39)	R1647W	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nmral1	C	T	16: 4,531,660 (GRCm39)	M198I	probably benign	Het
Nrap	C	A	19: 56,330,700 (GRCm39)	L1120F	probably damaging	Het
Nup155	T	A	15: 8,184,406 (GRCm39)	I1267N	probably damaging	Het
Obscn	G	A	11: 58,898,414 (GRCm39)	P6616S	unknown	Het
Ocstamp	T	G	2: 165,239,229 (GRCm39)	D319A	probably damaging	Het
Ooep	T	C	9: 78,285,433 (GRCm39)	D61G	probably damaging	Het
Or10p1	A	G	10: 129,443,949 (GRCm39)	S134P	probably benign	Het
Or1e25	A	T	11: 73,493,810 (GRCm39)	I135F	probably damaging	Het
Or52ad1	A	G	7: 102,995,538 (GRCm39)	V199A	probably benign	Het
Or6c5c	T	C	10: 129,298,856 (GRCm39)	S104P	probably damaging	Het
Or7g35	A	G	9: 19,495,938 (GRCm39)	Y35C	probably damaging	Het
Otoa	A	G	7: 120,701,765 (GRCm39)	E148G	probably benign	Het
Ovgp1	A	T	3: 105,894,387 (GRCm39)	D720V	unknown	Het
Padi2	T	A	4: 140,660,079 (GRCm39)	F294I	probably damaging	Het
Pcdha7	T	A	18: 37,107,471 (GRCm39)	N165K	probably damaging	Het
Pcdhb6	C	A	18: 37,468,261 (GRCm39)	P394H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,072 (GRCm39)	V264A	possibly damaging	Het
Pik3ap1	G	T	19: 41,284,815 (GRCm39)	D623E	possibly damaging	Het
Prdm10	A	T	9: 31,268,456 (GRCm39)	K802*	probably null	Het
Ptgfrn	G	A	3: 100,980,363 (GRCm39)	L326F	possibly damaging	Het
Rgsl1	T	G	1: 153,683,622 (GRCm39)		probably null	Het
Rock1	T	G	18: 10,129,317 (GRCm39)	T347P	possibly damaging	Het
Rprd2	G	A	3: 95,684,022 (GRCm39)	P338S	probably damaging	Het
Sdk1	A	T	5: 141,923,377 (GRCm39)	N333Y	probably damaging	Het
Setd4	T	A	16: 93,388,132 (GRCm39)	H118L	probably benign	Het
Sirt3	G	A	7: 140,458,039 (GRCm39)	P37S		Het
Slc16a9	G	T	10: 70,119,000 (GRCm39)	G440W	probably damaging	Het
Slc22a23	T	A	13: 34,367,161 (GRCm39)	I616F	probably damaging	Het
Slc30a8	A	C	15: 52,180,707 (GRCm39)	D102A	probably damaging	Het
Slc6a4	T	A	11: 76,901,527 (GRCm39)	D87E	possibly damaging	Het
Slc9a4	A	C	1: 40,668,663 (GRCm39)	T769P	probably benign	Het
Sspo	A	T	6: 48,431,762 (GRCm39)	Y685F	probably damaging	Het
Sspo	C	A	6: 48,450,390 (GRCm39)	Q2560K	probably benign	Het
Stpg1	T	A	4: 135,256,827 (GRCm39)	L206Q	probably damaging	Het
Stt3b	A	T	9: 115,095,183 (GRCm39)	Y283N	probably damaging	Het
Sult4a1	T	C	15: 83,970,814 (GRCm39)	E197G	probably damaging	Het
Syne1	T	G	10: 4,997,635 (GRCm39)	D444A	probably damaging	Het
Tex15	T	A	8: 34,064,845 (GRCm39)	V1425E	possibly damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmcc3	A	G	10: 94,266,434 (GRCm39)		probably benign	Het
Tnfrsf8	T	A	4: 145,000,952 (GRCm39)	N385Y	probably benign	Het
Ttc4	T	C	4: 106,536,017 (GRCm39)	D15G	possibly damaging	Het
Tut1	A	G	19: 8,941,413 (GRCm39)	N400S	probably benign	Het
Usp39	T	C	6: 72,313,413 (GRCm39)	K259R	probably benign	Het
Vmn1r215	C	T	13: 23,260,484 (GRCm39)	H175Y	probably benign	Het
Vmn1r36	A	T	6: 66,693,107 (GRCm39)	M256K	probably benign	Het
Zfp128	T	A	7: 12,624,461 (GRCm39)	H276Q	possibly damaging	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	Het
Zfp354c	A	T	11: 50,705,483 (GRCm39)	Y531N	probably damaging	Het
Zfp532	T	A	18: 65,756,076 (GRCm39)	M3K	probably damaging	Het
Zfp64	T	G	2: 168,741,810 (GRCm39)	K373Q	probably damaging	Het
Zfp764l1	C	T	7: 126,990,856 (GRCm39)	S377N	probably benign	Het
Zfp983	T	G	17: 21,880,413 (GRCm39)	S114A	probably damaging	Het
Zranb1	G	A	7: 132,584,481 (GRCm39)	R583K	probably damaging	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
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
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'- TGAGCACCAGCCTACTTACG -3'
(R):5'- GTAAAGATCTAAGTTGCCCCTTTTC -3'

Sequencing Primer
(F):5'- AGTCTCCATCTGTGAAATGTAGACCC -3'
(R):5'- AAGTTGCCCCTTTTCTGTGTTAG -3'

Posted On

2019-06-26