Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00531:Son'

5785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Son

Ensembl Gene

ENSMUSG00000022961

Gene Name

Son DNA binding protein

Synonyms

2900011L12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL00531

Quality Score

Status

Chromosome

Chromosomal Location

91444712-91476080 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91461210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 177 (K177R)

Ref Sequence

ENSEMBL: ENSMUSP00000113615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114036] [ENSMUST00000114037] [ENSMUST00000117633] [ENSMUST00000119368] [ENSMUST00000122302] [ENSMUST00000140312]

AlphaFold

Q9QX47

Predicted Effect

probably benign
Transcript: ENSMUST00000114036

SMART Domains

Protein: ENSMUSP00000109670
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	1.65e-7	PROSPERO
internal_repeat_2	214	362	6.55e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	1.65e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	6.55e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114037
AA Change: K2167R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109671
Gene: ENSMUSG00000022961
AA Change: K2167R

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	1.71e-7	PROSPERO
internal_repeat_2	214	362	7.05e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	1.71e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	7.05e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC
low complexity region	2149	2155	N/A	INTRINSIC
G_patch	2321	2367	1.15e-17	SMART
Pfam:DND1_DSRM	2388	2442	5.7e-15	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000117633
AA Change: K2167R

SMART Domains

Protein: ENSMUSP00000112453
Gene: ENSMUSG00000022961
AA Change: K2167R

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	1.59e-7	PROSPERO
internal_repeat_2	214	362	6.63e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	1.59e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	6.63e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
Pfam:RSRP	1909	2216	1e-12	PFAM
G_patch	2321	2367	1.15e-17	SMART
DSRM	2390	2458	5.37e-20	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000119368
AA Change: K2167R

SMART Domains

Protein: ENSMUSP00000113129
Gene: ENSMUSG00000022961
AA Change: K2167R

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	2.22e-7	PROSPERO
internal_repeat_2	214	362	8.67e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	2.22e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	8.67e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC
low complexity region	2149	2155	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122302
AA Change: K177R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113615
Gene: ENSMUSG00000022961
AA Change: K177R

Domain	Start	End	E-Value	Type
low complexity region	90	101	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	159	165	N/A	INTRINSIC
G_patch	331	377	1.15e-17	SMART
Pfam:DND1_DSRM	398	452	7.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133589

Predicted Effect

unknown
Transcript: ENSMUST00000140312
AA Change: K2167R

SMART Domains

Protein: ENSMUSP00000122320
Gene: ENSMUSG00000022961
AA Change: K2167R

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	2.93e-7	PROSPERO
internal_repeat_2	214	362	1.1e-5	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	2.93e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	1.1e-5	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC
low complexity region	2149	2155	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000147891
AA Change: K308R

SMART Domains

Protein: ENSMUSP00000122544
Gene: ENSMUSG00000022961
AA Change: K308R

Domain	Start	End	E-Value	Type
Pfam:RSRP	61	358	2.9e-13	PFAM
low complexity region	466	477	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnah17	A	G	11: 117,933,999 (GRCm39)	I3525T	probably damaging	Het
Ednrb	T	C	14: 104,057,455 (GRCm39)	Y369C	probably damaging	Het
Folh1	T	A	7: 86,368,977 (GRCm39)	I717L	possibly damaging	Het
Golga2	T	A	2: 32,195,226 (GRCm39)	D706E	probably benign	Het
Miip	C	A	4: 147,950,322 (GRCm39)	W91C	probably damaging	Het
Nav3	T	C	10: 109,539,171 (GRCm39)	S2077G	probably null	Het
Nsrp1	G	A	11: 76,937,021 (GRCm39)	R392*	probably null	Het
Ryr3	T	C	2: 112,493,357 (GRCm39)		probably benign	Het
Stau1	A	G	2: 166,806,542 (GRCm39)	S13P	probably benign	Het
Tnc	G	A	4: 63,889,390 (GRCm39)		probably benign	Het
Vezf1	G	A	11: 87,964,320 (GRCm39)	M157I	probably benign	Het
Zfp281	T	A	1: 136,555,648 (GRCm39)	D875E	probably damaging	Het

Other mutations in Son

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Son	APN	16	91,452,798 (GRCm39)	missense	probably damaging	1.00
IGL01066:Son	APN	16	91,457,024 (GRCm39)	intron	probably benign
IGL01083:Son	APN	16	91,454,279 (GRCm39)	missense	probably damaging	1.00
IGL01115:Son	APN	16	91,456,346 (GRCm39)	missense	probably benign	0.31
IGL01467:Son	APN	16	91,454,165 (GRCm39)	missense	possibly damaging	0.93
IGL01506:Son	APN	16	91,454,174 (GRCm39)	missense	possibly damaging	0.67
IGL01933:Son	APN	16	91,454,903 (GRCm39)	missense	probably benign	0.00
IGL02156:Son	APN	16	91,452,992 (GRCm39)	missense	possibly damaging	0.93
IGL02473:Son	APN	16	91,455,683 (GRCm39)	missense	probably damaging	0.99
IGL02498:Son	APN	16	91,453,713 (GRCm39)	missense	probably damaging	0.99
IGL02517:Son	APN	16	91,452,099 (GRCm39)	missense	possibly damaging	0.92
IGL02530:Son	APN	16	91,455,359 (GRCm39)	missense	possibly damaging	0.50
IGL02865:Son	APN	16	91,448,640 (GRCm39)	missense	probably damaging	1.00
IGL03180:Son	APN	16	91,453,896 (GRCm39)	missense	probably damaging	1.00
R0013:Son	UTSW	16	91,448,550 (GRCm39)	missense	probably damaging	1.00
R0036:Son	UTSW	16	91,457,054 (GRCm39)	intron	probably benign
R0037:Son	UTSW	16	91,461,616 (GRCm39)	missense	probably damaging	1.00
R0041:Son	UTSW	16	91,456,221 (GRCm39)	missense	probably damaging	1.00
R0048:Son	UTSW	16	91,455,865 (GRCm39)	missense	possibly damaging	0.94
R0048:Son	UTSW	16	91,455,865 (GRCm39)	missense	possibly damaging	0.94
R0056:Son	UTSW	16	91,475,043 (GRCm39)	missense	possibly damaging	0.86
R0227:Son	UTSW	16	91,453,761 (GRCm39)	missense	probably damaging	0.99
R0256:Son	UTSW	16	91,453,472 (GRCm39)	missense	possibly damaging	0.95
R0302:Son	UTSW	16	91,453,032 (GRCm39)	missense	probably damaging	1.00
R0815:Son	UTSW	16	91,452,372 (GRCm39)	missense	probably damaging	0.98
R1225:Son	UTSW	16	91,454,228 (GRCm39)	missense	probably damaging	1.00
R1255:Son	UTSW	16	91,461,583 (GRCm39)	missense	probably damaging	1.00
R1457:Son	UTSW	16	91,453,974 (GRCm39)	missense	probably damaging	1.00
R1459:Son	UTSW	16	91,452,230 (GRCm39)	missense	possibly damaging	0.93
R1535:Son	UTSW	16	91,456,622 (GRCm39)	missense	probably damaging	0.99
R1587:Son	UTSW	16	91,456,606 (GRCm39)	missense	probably damaging	1.00
R1605:Son	UTSW	16	91,454,552 (GRCm39)	missense	probably damaging	1.00
R1629:Son	UTSW	16	91,454,510 (GRCm39)	missense	probably damaging	1.00
R1711:Son	UTSW	16	91,457,114 (GRCm39)	intron	probably benign
R2138:Son	UTSW	16	91,456,260 (GRCm39)	missense	possibly damaging	0.95
R2245:Son	UTSW	16	91,444,848 (GRCm39)	splice site	probably null
R2351:Son	UTSW	16	91,454,547 (GRCm39)	missense	probably damaging	0.98
R2434:Son	UTSW	16	91,451,575 (GRCm39)	missense	probably damaging	1.00
R2870:Son	UTSW	16	91,461,205 (GRCm39)	splice site	probably null
R2871:Son	UTSW	16	91,461,205 (GRCm39)	splice site	probably null
R2872:Son	UTSW	16	91,461,205 (GRCm39)	splice site	probably null
R2889:Son	UTSW	16	91,456,787 (GRCm39)	unclassified	probably benign
R3712:Son	UTSW	16	91,453,614 (GRCm39)	missense	probably damaging	0.99
R3913:Son	UTSW	16	91,456,999 (GRCm39)	intron	probably benign
R4172:Son	UTSW	16	91,456,250 (GRCm39)	missense	probably damaging	1.00
R4301:Son	UTSW	16	91,455,299 (GRCm39)	missense	possibly damaging	0.53
R4302:Son	UTSW	16	91,455,299 (GRCm39)	missense	possibly damaging	0.53
R4770:Son	UTSW	16	91,455,756 (GRCm39)	missense	probably damaging	0.96
R4881:Son	UTSW	16	91,472,397 (GRCm39)	missense	probably benign	0.31
R5020:Son	UTSW	16	91,453,263 (GRCm39)	missense	probably damaging	1.00
R5032:Son	UTSW	16	91,454,552 (GRCm39)	missense	probably damaging	1.00
R5151:Son	UTSW	16	91,452,587 (GRCm39)	missense	probably damaging	1.00
R5153:Son	UTSW	16	91,451,910 (GRCm39)	missense	possibly damaging	0.86
R5215:Son	UTSW	16	91,453,563 (GRCm39)	missense	probably damaging	0.99
R5243:Son	UTSW	16	91,451,621 (GRCm39)	missense	probably damaging	1.00
R5354:Son	UTSW	16	91,452,627 (GRCm39)	missense	probably damaging	0.99
R5529:Son	UTSW	16	91,452,354 (GRCm39)	missense	probably damaging	1.00
R5696:Son	UTSW	16	91,468,301 (GRCm39)	missense	possibly damaging	0.67
R5763:Son	UTSW	16	91,454,378 (GRCm39)	missense	probably damaging	1.00
R5766:Son	UTSW	16	91,461,875 (GRCm39)	intron	probably benign
R5788:Son	UTSW	16	91,456,940 (GRCm39)	intron	probably benign
R5992:Son	UTSW	16	91,455,792 (GRCm39)	missense	probably benign	0.04
R6314:Son	UTSW	16	91,457,298 (GRCm39)	intron	probably benign
R6371:Son	UTSW	16	91,471,629 (GRCm39)
R6429:Son	UTSW	16	91,455,054 (GRCm39)	missense	probably benign	0.33
R6451:Son	UTSW	16	91,454,490 (GRCm39)	missense	probably damaging	0.99
R6489:Son	UTSW	16	91,452,044 (GRCm39)	missense	possibly damaging	0.70
R6513:Son	UTSW	16	91,456,835 (GRCm39)	intron	probably benign
R6753:Son	UTSW	16	91,454,076 (GRCm39)	missense	probably damaging	0.99
R6916:Son	UTSW	16	91,451,673 (GRCm39)	missense	probably damaging	0.97
R7070:Son	UTSW	16	91,453,729 (GRCm39)	unclassified	probably benign
R7079:Son	UTSW	16	91,453,729 (GRCm39)	unclassified	probably benign
R7110:Son	UTSW	16	91,453,406 (GRCm39)	missense	probably benign	0.01
R7120:Son	UTSW	16	91,467,414 (GRCm39)	missense	unknown
R7120:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R7167:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7205:Son	UTSW	16	91,457,183 (GRCm39)	small deletion	probably benign
R7208:Son	UTSW	16	91,458,990 (GRCm39)	missense	unknown
R7219:Son	UTSW	16	91,461,889 (GRCm39)	missense	unknown
R7249:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7328:Son	UTSW	16	91,455,278 (GRCm39)	missense	probably benign	0.33
R7330:Son	UTSW	16	91,453,486 (GRCm39)	unclassified	probably benign
R7374:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7405:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R7420:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7424:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7464:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R7514:Son	UTSW	16	91,451,748 (GRCm39)	missense	probably damaging	0.99
R7555:Son	UTSW	16	91,455,810 (GRCm39)	missense	probably damaging	0.99
R7645:Son	UTSW	16	91,457,183 (GRCm39)	small deletion	probably benign
R7716:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R7718:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7778:Son	UTSW	16	91,453,416 (GRCm39)	missense	probably damaging	0.99
R7824:Son	UTSW	16	91,453,416 (GRCm39)	missense	probably damaging	0.99
R7856:Son	UTSW	16	91,456,146 (GRCm39)	missense	probably damaging	0.99
R7870:Son	UTSW	16	91,453,486 (GRCm39)	unclassified	probably benign
R7928:Son	UTSW	16	91,453,729 (GRCm39)	unclassified	probably benign
R7972:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R7978:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R8000:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R8192:Son	UTSW	16	91,452,437 (GRCm39)	missense	possibly damaging	0.91
R8221:Son	UTSW	16	91,453,734 (GRCm39)	missense	probably damaging	1.00
R8227:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R8233:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R8255:Son	UTSW	16	91,461,824 (GRCm39)	missense	unknown
R8292:Son	UTSW	16	91,453,545 (GRCm39)	missense	possibly damaging	0.93
R8407:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R8468:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R8495:Son	UTSW	16	91,457,183 (GRCm39)	small deletion	probably benign
R8772:Son	UTSW	16	91,454,826 (GRCm39)	missense	possibly damaging	0.65
R8796:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R8862:Son	UTSW	16	91,453,734 (GRCm39)	missense	probably damaging	1.00
R8962:Son	UTSW	16	91,455,057 (GRCm39)	missense	possibly damaging	0.91
R8972:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R8991:Son	UTSW	16	91,453,608 (GRCm39)	missense	possibly damaging	0.95
R8991:Son	UTSW	16	91,453,366 (GRCm39)	missense	probably benign	0.04
R9086:Son	UTSW	16	91,467,418 (GRCm39)	missense	unknown
R9138:Son	UTSW	16	91,452,006 (GRCm39)	missense	possibly damaging	0.80
R9232:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R9241:Son	UTSW	16	91,454,122 (GRCm39)	missense	probably damaging	0.96
R9258:Son	UTSW	16	91,474,570 (GRCm39)	missense	unknown
R9328:Son	UTSW	16	91,452,645 (GRCm39)	missense	possibly damaging	0.67
R9420:Son	UTSW	16	91,454,508 (GRCm39)	missense	probably damaging	0.98
R9468:Son	UTSW	16	91,454,439 (GRCm39)	missense	possibly damaging	0.53
R9500:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R9516:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R9595:Son	UTSW	16	91,454,241 (GRCm39)	missense	possibly damaging	0.73
R9679:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R9719:Son	UTSW	16	91,456,440 (GRCm39)	missense	probably damaging	0.96
R9749:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
R9772:Son	UTSW	16	91,457,222 (GRCm39)	small deletion	probably benign
R9782:Son	UTSW	16	91,444,838 (GRCm39)	missense	probably damaging	0.99
R9788:Son	UTSW	16	91,453,699 (GRCm39)	unclassified	probably benign
RF007:Son	UTSW	16	91,456,257 (GRCm39)	missense	possibly damaging	0.53
RF041:Son	UTSW	16	91,453,579 (GRCm39)	unclassified	probably benign
Z1176:Son	UTSW	16	91,452,689 (GRCm39)	missense	possibly damaging	0.80

Posted On

2012-04-20