Mutagenetix > Incidental Mutation

Incidental Mutation 'R4754:Fam135a'

357763

Institutional Source

Beutler Lab

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 #

R4754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24050174-24139422 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24067835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 798 (C798*)

Ref Sequence

ENSEMBL: ENSMUSP00000139633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000185807] [ENSMUST00000186331] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]

AlphaFold

Q6NS59

Predicted Effect

probably null
Transcript: ENSMUST00000027337
AA Change: C1011*

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: C1011*

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: ENSMUST00000185807

SMART Domains

Protein: ENSMUSP00000140078
Gene: ENSMUSG00000026153

Domain	Start	End	E-Value	Type
Blast:LRRNT	27	60	4e-7	BLAST
low complexity region	61	72	N/A	INTRINSIC
Pfam:DUF676	104	161	2.2e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000186331
AA Change: C111*

SMART Domains

Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: C111*

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 null
Transcript: ENSMUST00000186999
AA Change: C841*

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: C841*

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 null
Transcript: ENSMUST00000187369
AA Change: C815*

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: C815*

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 benign
Transcript: ENSMUST00000187619

Predicted Effect

probably null
Transcript: ENSMUST00000187752
AA Change: C798*

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: C798*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,837 (GRCm39)	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,960,717 (GRCm39)	F266L	probably damaging	Het
Adam8	A	T	7: 139,564,693 (GRCm39)	I681N	possibly damaging	Het
Adgrf3	T	A	5: 30,402,615 (GRCm39)		probably null	Het
Ang2	A	G	14: 51,432,974 (GRCm39)	V136A	probably damaging	Het
Ankar	C	T	1: 72,737,853 (GRCm39)	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,540,468 (GRCm39)	L130P	probably damaging	Het
Apc2	T	G	10: 80,150,192 (GRCm39)	W1749G	probably benign	Het
Asb2	T	C	12: 103,290,096 (GRCm39)	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,233,279 (GRCm39)	T58K	probably benign	Het
Bltp1	C	T	3: 37,076,615 (GRCm39)	Q3663*	probably null	Het
Brpf1	T	A	6: 113,297,408 (GRCm39)	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,098,994 (GRCm39)	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 104,912,410 (GRCm39)	I555F	probably damaging	Het
Cfap73	T	C	5: 120,767,729 (GRCm39)	D274G	probably damaging	Het
Chd5	T	A	4: 152,462,203 (GRCm39)	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,658,911 (GRCm39)	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,443,200 (GRCm39)	I964V	possibly damaging	Het
Ctbp2	C	A	7: 132,625,287 (GRCm39)		probably null	Het
Dhrs2	A	T	14: 55,476,205 (GRCm39)	I142F	probably damaging	Het
Dnah5	T	A	15: 28,421,101 (GRCm39)		probably null	Het
Dst	T	C	1: 34,251,390 (GRCm39)	S1822P	probably damaging	Het
Ect2	T	C	3: 27,181,112 (GRCm39)	K581E	probably damaging	Het
Edem1	C	T	6: 108,818,658 (GRCm39)	T222M	probably damaging	Het
Eif2ak1	A	G	5: 143,838,621 (GRCm39)	M592V	probably damaging	Het
Endou	T	G	15: 97,624,420 (GRCm39)	D49A	probably damaging	Het
Ensa	A	G	3: 95,529,865 (GRCm39)		probably benign	Het
Evc2	G	T	5: 37,544,375 (GRCm39)	R708L	probably damaging	Het
Fam120b	T	A	17: 15,643,224 (GRCm39)	C668S	probably damaging	Het
Fam135b	T	C	15: 71,334,800 (GRCm39)	D798G	probably benign	Het
Fshb	A	C	2: 106,887,627 (GRCm39)	*131E	probably null	Het
G3bp2	C	T	5: 92,202,768 (GRCm39)	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,597,105 (GRCm39)	F354I	probably damaging	Het
Gm1123	C	A	9: 98,905,293 (GRCm39)		probably null	Het
Gm1123	A	T	9: 98,905,294 (GRCm39)		probably null	Het
Gm15130	T	C	2: 110,973,207 (GRCm39)	N115S	unknown	Het
Gm7104	A	G	12: 88,252,765 (GRCm39)		noncoding transcript	Het
Gm9762	A	T	3: 78,873,728 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,756,173 (GRCm39)	T505A	probably damaging	Het
Grip2	A	G	6: 91,756,163 (GRCm39)	V508A	probably damaging	Het
Haus4	A	G	14: 54,787,349 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,408,488 (GRCm39)	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,546,950 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,321 (GRCm39)	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,881 (GRCm39)		noncoding transcript	Het
Kcnma1	T	C	14: 23,413,904 (GRCm39)	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,687,439 (GRCm39)	I430F	possibly damaging	Het
Lama2	C	A	10: 26,994,527 (GRCm39)	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,256,137 (GRCm39)	F59I	probably damaging	Het
Mib2	G	T	4: 155,739,822 (GRCm39)	T783K	possibly damaging	Het
Nlrp4g	T	C	9: 124,349,788 (GRCm38)		noncoding transcript	Het
Nudt16l2	A	T	9: 105,021,592 (GRCm39)	F151L	probably benign	Het
Obscn	T	C	11: 58,926,869 (GRCm39)	I6352V	possibly damaging	Het
Or2j6	C	T	7: 139,980,072 (GRCm39)	A296T	probably damaging	Het
Or4a72	A	T	2: 89,405,391 (GRCm39)	H226Q	probably benign	Het
Or4k1	T	A	14: 50,377,490 (GRCm39)	N202I	possibly damaging	Het
Or4k1	T	G	14: 50,377,491 (GRCm39)	N202H	probably benign	Het
Or52a5	T	C	7: 103,426,875 (GRCm39)	I226V	probably benign	Het
Or5b125-ps1	T	A	19: 13,056,225 (GRCm39)		noncoding transcript	Het
Pcdh10	G	A	3: 45,335,072 (GRCm39)	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,899,604 (GRCm39)	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,435,601 (GRCm39)	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,821,016 (GRCm39)	D282G	probably damaging	Het
Plod2	T	G	9: 92,488,584 (GRCm39)	Y624*	probably null	Het
Prkd3	C	A	17: 79,264,043 (GRCm39)	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,816,080 (GRCm39)	V198D	probably damaging	Het
Ptpn12	G	T	5: 21,203,587 (GRCm39)	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,212 (GRCm39)		probably benign	Het
Rasl11a	A	G	5: 146,783,825 (GRCm39)	D90G	probably benign	Het
Rnf181	A	G	6: 72,337,543 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,587,984 (GRCm39)	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,061,295 (GRCm39)		probably benign	Het
Slc22a3	T	C	17: 12,726,082 (GRCm39)	S44G	probably benign	Het
Slc38a1	A	T	15: 96,474,663 (GRCm39)	F463I	probably damaging	Het
Smg1	A	T	7: 117,755,954 (GRCm39)		probably benign	Het
Syk	T	C	13: 52,766,295 (GRCm39)		probably benign	Het
Tasor	A	T	14: 27,183,052 (GRCm39)	I504L	probably benign	Het
Tbc1d5	T	C	17: 51,107,193 (GRCm39)	I454M	probably benign	Het
Tmed6	C	A	8: 107,790,362 (GRCm39)	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,335,677 (GRCm39)	K828*	probably null	Het
Tmprss15	A	T	16: 78,851,012 (GRCm39)	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,038,360 (GRCm39)	S1493P	probably damaging	Het
Tshb	A	T	3: 102,685,491 (GRCm39)	I46N	probably damaging	Het
Tspan11	T	C	6: 127,915,183 (GRCm39)	V99A	probably benign	Het
Ttn	T	C	2: 76,545,905 (GRCm39)	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,012,952 (GRCm39)	M1T	probably null	Het
Vmn2r104	A	T	17: 20,261,030 (GRCm39)	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,816,458 (GRCm39)	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,600,715 (GRCm39)	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,752,466 (GRCm39)	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477 (GRCm39)	S139T	probably benign	Het
Zkscan17	G	A	11: 59,393,851 (GRCm39)	R156*	probably null	Het
Zp2	A	G	7: 119,737,541 (GRCm39)	V248A	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
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
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'- TCCTGCTGCAGATCACTAATCC -3'
(R):5'- AACCTCATTTGGATGCTCCC -3'

Sequencing Primer
(F):5'- AGATCACTAATCCCTTTGTCGCAGG -3'
(R):5'- CCCAGAGTCAGGGTACATCTAG -3'

Posted On

2015-11-11