Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03107:Fam135b'

419011

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

71310800-71600282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71335410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 595 (V595I)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022953]

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: V595I

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

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: V595I

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	172	1.9e-19	PFAM
low complexity region	744	757	N/A	INTRINSIC
low complexity region	1124	1130	N/A	INTRINSIC
Pfam:DUF676	1132	1328	2.7e-60	PFAM
Pfam:PGAP1	1135	1309	3.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229634

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,518 (GRCm39)		noncoding transcript	Het
Angpt4	A	G	2: 151,785,342 (GRCm39)	M453V	probably benign	Het
Atr	T	A	9: 95,779,783 (GRCm39)	D1380E	probably benign	Het
Carmil1	A	T	13: 24,278,438 (GRCm39)	M177K	probably damaging	Het
Cenpk	T	A	13: 104,379,280 (GRCm39)	I203N	probably damaging	Het
Cerk	A	T	15: 86,027,014 (GRCm39)	N165K	probably benign	Het
Col27a1	G	A	4: 63,242,869 (GRCm39)		probably benign	Het
Crb2	A	T	2: 37,681,428 (GRCm39)	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,701,376 (GRCm39)	D91G	probably damaging	Het
Dnajc6	G	T	4: 101,474,057 (GRCm39)	W486L	probably damaging	Het
Elmod1	C	T	9: 53,841,507 (GRCm39)		probably benign	Het
Ercc3	G	T	18: 32,381,360 (GRCm39)	R392L	possibly damaging	Het
Fem1al	T	A	11: 29,774,360 (GRCm39)	I366F	probably damaging	Het
Fermt1	A	T	2: 132,775,059 (GRCm39)	S256T	probably damaging	Het
Fstl5	G	T	3: 76,443,618 (GRCm39)	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,002,742 (GRCm39)	N256T	probably benign	Het
Gpd2	T	A	2: 57,245,581 (GRCm39)	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,521,574 (GRCm39)	M43L	probably benign	Het
Itgae	A	G	11: 73,004,427 (GRCm39)	Q238R	probably damaging	Het
Lats1	T	A	10: 7,588,510 (GRCm39)	D1042E	probably benign	Het
Lcn8	G	A	2: 25,545,377 (GRCm39)	G156D	probably damaging	Het
Loxl4	A	C	19: 42,593,718 (GRCm39)	V224G	probably benign	Het
Lrp2	T	A	2: 69,285,177 (GRCm39)	D3827V	probably damaging	Het
Neb	C	A	2: 52,073,837 (GRCm39)	R231S	probably benign	Het
Or2g1	G	A	17: 38,106,679 (GRCm39)	V115I	probably benign	Het
Or5b105	A	T	19: 13,080,401 (GRCm39)	M89K	probably benign	Het
Or6c211	A	G	10: 129,505,809 (GRCm39)	M193T	probably benign	Het
Or6d13	T	G	6: 116,517,900 (GRCm39)	M162R	possibly damaging	Het
Or8g54	T	G	9: 39,707,475 (GRCm39)	M268R	probably benign	Het
Pappa	T	G	4: 65,122,940 (GRCm39)	S758R	probably damaging	Het
Pced1a	G	A	2: 130,264,755 (GRCm39)	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,250,594 (GRCm39)	D731G	probably damaging	Het
Plxnb1	G	A	9: 108,934,054 (GRCm39)	D761N	probably benign	Het
Pmp22	T	C	11: 63,049,135 (GRCm39)	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,152,748 (GRCm39)	R296S	probably damaging	Het
Prkcq	A	C	2: 11,265,597 (GRCm39)	H438P	probably damaging	Het
Ryr1	T	A	7: 28,774,624 (GRCm39)	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,765,686 (GRCm39)		probably benign	Het
Scp2	T	A	4: 107,955,312 (GRCm39)	I144F	probably benign	Het
Secisbp2	T	C	13: 51,806,793 (GRCm39)		probably null	Het
Sema5a	T	A	15: 32,669,554 (GRCm39)	Y693N	probably damaging	Het
Sin3b	T	A	8: 73,480,213 (GRCm39)	I905K	probably damaging	Het
Slc13a3	T	A	2: 165,279,227 (GRCm39)	M195L	probably benign	Het
Strada	A	G	11: 106,054,863 (GRCm39)		probably benign	Het
Stx18	G	A	5: 38,293,655 (GRCm39)	V294M	probably damaging	Het
Tbpl2	A	T	2: 23,983,845 (GRCm39)	N197K	probably benign	Het
Tdrd9	A	T	12: 112,009,274 (GRCm39)	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,396,223 (GRCm39)	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,004,705 (GRCm39)	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,024,528 (GRCm39)	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,031,820 (GRCm39)	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,275,633 (GRCm39)		probably benign	Het
Unc80	C	A	1: 66,670,613 (GRCm39)	P1912Q	probably damaging	Het

Other mutations in Fam135b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fam135b	APN	15	71,322,343 (GRCm39)	missense	probably damaging	1.00
IGL00565:Fam135b	APN	15	71,343,361 (GRCm39)	missense	probably benign
IGL00645:Fam135b	APN	15	71,334,395 (GRCm39)	missense	probably damaging	1.00
IGL00686:Fam135b	APN	15	71,334,168 (GRCm39)	missense	probably benign	0.00
IGL00857:Fam135b	APN	15	71,335,465 (GRCm39)	missense	probably benign	0.16
IGL01443:Fam135b	APN	15	71,335,213 (GRCm39)	missense	probably benign	0.02
IGL01690:Fam135b	APN	15	71,328,784 (GRCm39)	missense	probably benign	0.19
IGL01920:Fam135b	APN	15	71,493,885 (GRCm39)	missense	possibly damaging	0.94
IGL01987:Fam135b	APN	15	71,333,964 (GRCm39)	missense	probably benign
IGL02154:Fam135b	APN	15	71,320,559 (GRCm39)	missense	probably benign	0.12
IGL03264:Fam135b	APN	15	71,334,637 (GRCm39)	missense	probably benign
IGL03055:Fam135b	UTSW	15	71,493,883 (GRCm39)	missense	possibly damaging	0.51
R0010:Fam135b	UTSW	15	71,493,881 (GRCm39)	missense	probably damaging	1.00
R0010:Fam135b	UTSW	15	71,493,881 (GRCm39)	missense	probably damaging	1.00
R0230:Fam135b	UTSW	15	71,317,886 (GRCm39)	missense	probably benign	0.02
R0413:Fam135b	UTSW	15	71,335,670 (GRCm39)	missense	probably benign	0.45
R0524:Fam135b	UTSW	15	71,334,133 (GRCm39)	missense	probably benign	0.00
R0565:Fam135b	UTSW	15	71,362,686 (GRCm39)	missense	possibly damaging	0.88
R0628:Fam135b	UTSW	15	71,320,505 (GRCm39)	splice site	probably benign
R1415:Fam135b	UTSW	15	71,328,777 (GRCm39)	missense	probably damaging	0.99
R1462:Fam135b	UTSW	15	71,493,845 (GRCm39)	splice site	probably benign
R1701:Fam135b	UTSW	15	71,331,578 (GRCm39)	missense	probably damaging	1.00
R1797:Fam135b	UTSW	15	71,324,290 (GRCm39)	missense	probably benign	0.41
R1807:Fam135b	UTSW	15	71,335,761 (GRCm39)	missense	probably benign
R1835:Fam135b	UTSW	15	71,362,560 (GRCm39)	missense	probably damaging	1.00
R1905:Fam135b	UTSW	15	71,404,836 (GRCm39)	missense	probably damaging	1.00
R1937:Fam135b	UTSW	15	71,493,863 (GRCm39)	missense	probably damaging	1.00
R1998:Fam135b	UTSW	15	71,324,253 (GRCm39)	missense	probably damaging	0.98
R2076:Fam135b	UTSW	15	71,350,092 (GRCm39)	missense	probably damaging	0.99
R2518:Fam135b	UTSW	15	71,335,760 (GRCm39)	missense	probably benign	0.00
R3110:Fam135b	UTSW	15	71,335,879 (GRCm39)	missense	probably benign	0.05
R3112:Fam135b	UTSW	15	71,335,879 (GRCm39)	missense	probably benign	0.05
R3932:Fam135b	UTSW	15	71,322,280 (GRCm39)	missense	probably benign	0.29
R4361:Fam135b	UTSW	15	71,362,676 (GRCm39)	missense	probably damaging	1.00
R4397:Fam135b	UTSW	15	71,320,525 (GRCm39)	missense	probably benign	0.17
R4435:Fam135b	UTSW	15	71,320,588 (GRCm39)	missense	probably damaging	1.00
R4645:Fam135b	UTSW	15	71,334,189 (GRCm39)	missense	probably benign
R4740:Fam135b	UTSW	15	71,335,920 (GRCm39)	missense	probably benign	0.01
R4748:Fam135b	UTSW	15	71,335,904 (GRCm39)	missense	probably benign	0.00
R4754:Fam135b	UTSW	15	71,334,800 (GRCm39)	missense	probably benign	0.01
R5044:Fam135b	UTSW	15	71,334,560 (GRCm39)	missense	probably benign	0.02
R5469:Fam135b	UTSW	15	71,317,892 (GRCm39)	missense	probably benign	0.16
R5617:Fam135b	UTSW	15	71,493,865 (GRCm39)	missense	probably damaging	1.00
R5642:Fam135b	UTSW	15	71,333,985 (GRCm39)	missense	probably damaging	1.00
R5778:Fam135b	UTSW	15	71,350,881 (GRCm39)	missense	probably damaging	1.00
R5891:Fam135b	UTSW	15	71,397,652 (GRCm39)	missense	probably damaging	1.00
R5958:Fam135b	UTSW	15	71,334,744 (GRCm39)	missense
R5982:Fam135b	UTSW	15	71,320,518 (GRCm39)	critical splice donor site	probably null
R5987:Fam135b	UTSW	15	71,362,697 (GRCm39)	missense	probably benign	0.00
R6535:Fam135b	UTSW	15	71,493,924 (GRCm39)	missense	probably damaging	0.99
R6734:Fam135b	UTSW	15	71,334,629 (GRCm39)	missense	probably benign	0.02
R6887:Fam135b	UTSW	15	71,335,164 (GRCm39)	missense	probably damaging	1.00
R7028:Fam135b	UTSW	15	71,343,412 (GRCm39)	missense	probably damaging	1.00
R7035:Fam135b	UTSW	15	71,334,102 (GRCm39)	missense	possibly damaging	0.77
R7097:Fam135b	UTSW	15	71,493,917 (GRCm39)	missense	possibly damaging	0.92
R7143:Fam135b	UTSW	15	71,351,000 (GRCm39)	missense	probably benign	0.44
R7414:Fam135b	UTSW	15	71,350,105 (GRCm39)	missense	probably damaging	0.97
R7439:Fam135b	UTSW	15	71,335,529 (GRCm39)	missense	probably damaging	0.98
R7441:Fam135b	UTSW	15	71,335,529 (GRCm39)	missense	probably damaging	0.98
R7545:Fam135b	UTSW	15	71,322,359 (GRCm39)	missense	possibly damaging	0.95
R7615:Fam135b	UTSW	15	71,335,172 (GRCm39)	missense	probably damaging	1.00
R7642:Fam135b	UTSW	15	71,350,991 (GRCm39)	missense	possibly damaging	0.51
R7649:Fam135b	UTSW	15	71,334,429 (GRCm39)	missense	probably benign	0.00
R7686:Fam135b	UTSW	15	71,335,233 (GRCm39)	missense	possibly damaging	0.68
R7866:Fam135b	UTSW	15	71,333,925 (GRCm39)	missense	probably benign	0.00
R8006:Fam135b	UTSW	15	71,334,183 (GRCm39)	missense	probably benign	0.00
R8068:Fam135b	UTSW	15	71,404,827 (GRCm39)	missense	probably damaging	1.00
R8167:Fam135b	UTSW	15	71,404,840 (GRCm39)	missense	probably null	1.00
R8252:Fam135b	UTSW	15	71,404,872 (GRCm39)	missense	probably benign	0.10
R8548:Fam135b	UTSW	15	71,334,659 (GRCm39)	missense	probably damaging	0.99
R8833:Fam135b	UTSW	15	71,334,783 (GRCm39)	missense	probably benign	0.04
R8955:Fam135b	UTSW	15	71,334,063 (GRCm39)	missense	possibly damaging	0.85
R8961:Fam135b	UTSW	15	71,404,812 (GRCm39)	missense	probably damaging	1.00
R8987:Fam135b	UTSW	15	71,334,189 (GRCm39)	missense	probably benign	0.00
R9149:Fam135b	UTSW	15	71,334,744 (GRCm39)	missense
R9161:Fam135b	UTSW	15	71,334,417 (GRCm39)	missense	possibly damaging	0.91
R9227:Fam135b	UTSW	15	71,335,856 (GRCm39)	missense	probably benign	0.28
R9230:Fam135b	UTSW	15	71,335,856 (GRCm39)	missense	probably benign	0.28
R9365:Fam135b	UTSW	15	71,334,813 (GRCm39)	missense	probably benign	0.00
R9622:Fam135b	UTSW	15	71,397,686 (GRCm39)	missense	probably damaging	0.98
R9758:Fam135b	UTSW	15	71,324,199 (GRCm39)	missense	probably benign	0.28
R9759:Fam135b	UTSW	15	71,335,689 (GRCm39)	missense	probably benign	0.44
T0722:Fam135b	UTSW	15	71,335,734 (GRCm39)	missense	probably damaging	1.00
T0975:Fam135b	UTSW	15	71,335,734 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam135b	UTSW	15	71,493,925 (GRCm39)	start codon destroyed	probably null	0.06

Posted On

2016-08-02