Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03404:Sun5'

421549

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sun5

Ensembl Gene

ENSMUSG00000027480

Gene Name

Sad1 and UNC84 domain containing 5

Synonyms

Spag4l, 1700021O15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03404

Quality Score

Status

Chromosome

Chromosomal Location

153698108-153713004 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 153712924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028982] [ENSMUST00000028983]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028982

SMART Domains

Protein: ENSMUSP00000028982
Gene: ENSMUSG00000027480

Domain	Start	End	E-Value	Type
Pfam:Sad1_UNC	204	336	8.9e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028983

SMART Domains

Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	36	194	2.4e-27	PFAM
BPI2	253	456	2.67e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129776

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	G	17: 32,531,250 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,565,871 (GRCm39)	S99P	probably damaging	Het
Arhgef1	T	A	7: 24,616,268 (GRCm39)	M304K	probably benign	Het
Arpc5l	T	C	2: 38,903,895 (GRCm39)	L128P	probably damaging	Het
Chl1	A	T	6: 103,670,052 (GRCm39)	I497F	probably damaging	Het
Dnah3	C	T	7: 119,538,200 (GRCm39)	G616E	probably damaging	Het
Filip1	T	C	9: 79,725,841 (GRCm39)	E926G	probably damaging	Het
Fras1	A	T	5: 96,876,440 (GRCm39)	H2391L	probably damaging	Het
Fry	A	T	5: 150,249,633 (GRCm39)	D148V	probably damaging	Het
Glg1	A	T	8: 111,886,534 (GRCm39)	M1086K	probably damaging	Het
Gm12185	T	A	11: 48,798,864 (GRCm39)	Y543F	probably damaging	Het
Gtf3a	T	C	5: 146,887,449 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,296,409 (GRCm39)	Y3646F	probably benign	Het
Itpr3	A	G	17: 27,310,492 (GRCm39)	D425G	probably damaging	Het
Lipo3	A	C	19: 33,560,440 (GRCm39)		probably benign	Het
Ltbp1	A	C	17: 75,532,301 (GRCm39)	K443T	probably damaging	Het
Mylk3	A	G	8: 86,069,310 (GRCm39)	I497T	probably damaging	Het
Nlrp5	A	G	7: 23,129,459 (GRCm39)	D842G	probably benign	Het
Or10j3	T	C	1: 173,031,766 (GRCm39)	V281A	probably benign	Het
Or52s6	A	T	7: 103,092,195 (GRCm39)	V45E	possibly damaging	Het
Or6n1	A	G	1: 173,917,464 (GRCm39)	N286S	probably damaging	Het
Or8k3b	A	G	2: 86,520,372 (GRCm39)		probably benign	Het
Pkd1	A	T	17: 24,783,380 (GRCm39)	I120L	probably damaging	Het
Ptprc	T	C	1: 138,020,739 (GRCm39)	N401S	probably damaging	Het
Rptn	A	G	3: 93,305,436 (GRCm39)	H923R	possibly damaging	Het
Rrp8	T	C	7: 105,384,145 (GRCm39)	K119R	probably benign	Het
Setd7	A	T	3: 51,440,407 (GRCm39)	Y211*	probably null	Het
Sfxn5	G	A	6: 85,276,518 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,407,858 (GRCm39)	V290D	probably damaging	Het
Trrap	C	T	5: 144,769,996 (GRCm39)	P2740L	probably benign	Het
Ttc23	G	T	7: 67,328,645 (GRCm39)	L195F	probably damaging	Het
Tubb1	G	T	2: 174,299,241 (GRCm39)	G308C	probably damaging	Het
Vmn1r217	A	T	13: 23,298,810 (GRCm39)	F31I	probably benign	Het
Zp1	A	T	19: 10,891,825 (GRCm39)		probably benign	Het

Other mutations in Sun5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0384:Sun5	UTSW	2	153,700,885 (GRCm39)	missense	probably benign	0.43
R0442:Sun5	UTSW	2	153,712,872 (GRCm39)	missense	possibly damaging	0.93
R0505:Sun5	UTSW	2	153,712,872 (GRCm39)	missense	probably damaging	1.00
R0666:Sun5	UTSW	2	153,700,968 (GRCm39)	missense	possibly damaging	0.93
R1889:Sun5	UTSW	2	153,707,915 (GRCm39)	missense	probably benign	0.11
R2341:Sun5	UTSW	2	153,709,422 (GRCm39)	splice site	probably benign
R3711:Sun5	UTSW	2	153,709,468 (GRCm39)	missense	probably benign	0.00
R4751:Sun5	UTSW	2	153,707,936 (GRCm39)	splice site	probably null
R4762:Sun5	UTSW	2	153,707,283 (GRCm39)	nonsense	probably null
R4821:Sun5	UTSW	2	153,711,386 (GRCm39)	missense	probably benign
R6018:Sun5	UTSW	2	153,700,363 (GRCm39)	missense	probably damaging	1.00
R6248:Sun5	UTSW	2	153,702,589 (GRCm39)	missense	probably damaging	1.00
R8178:Sun5	UTSW	2	153,698,131 (GRCm39)	splice site	probably null
R8273:Sun5	UTSW	2	153,707,243 (GRCm39)	missense	possibly damaging	0.86
R9285:Sun5	UTSW	2	153,709,426 (GRCm39)	splice site	probably benign
R9363:Sun5	UTSW	2	153,700,365 (GRCm39)	missense	probably benign	0.00
R9728:Sun5	UTSW	2	153,709,466 (GRCm39)	missense	probably benign	0.00
X0023:Sun5	UTSW	2	153,712,884 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02