Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Sox5'

206225

Institutional Source

Beutler Lab

Gene Symbol

Sox5

Ensembl Gene

ENSMUSG00000041540

Gene Name

SRY (sex determining region Y)-box 5

Synonyms

A730017D01Rik

MMRRC Submission

039881-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143774151-144727703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143906541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 305 (S305C)

Ref Sequence

ENSEMBL: ENSMUSP00000133041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038815] [ENSMUST00000077160] [ENSMUST00000111749] [ENSMUST00000170367]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038815
AA Change: S305C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: S305C

Domain	Start	End	E-Value	Type
low complexity region	167	178	N/A	INTRINSIC
coiled coil region	193	272	N/A	INTRINSIC
low complexity region	336	348	N/A	INTRINSIC
low complexity region	431	445	N/A	INTRINSIC
coiled coil region	449	483	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
HMG	555	625	2.84e-26	SMART
low complexity region	686	708	N/A	INTRINSIC
low complexity region	729	750	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077160
AA Change: S306C

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

SMART Domains

Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: S306C

Domain	Start	End	E-Value	Type
low complexity region	167	178	N/A	INTRINSIC
coiled coil region	193	277	N/A	INTRINSIC
low complexity region	383	397	N/A	INTRINSIC
coiled coil region	401	435	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
HMG	507	577	2.84e-26	SMART
low complexity region	638	660	N/A	INTRINSIC
low complexity region	681	702	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111749
AA Change: S270C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
AA Change: S270C

Domain	Start	End	E-Value	Type
low complexity region	132	143	N/A	INTRINSIC
coiled coil region	158	237	N/A	INTRINSIC
low complexity region	347	361	N/A	INTRINSIC
coiled coil region	365	399	N/A	INTRINSIC
low complexity region	410	421	N/A	INTRINSIC
HMG	471	541	2.84e-26	SMART
low complexity region	602	624	N/A	INTRINSIC
low complexity region	645	666	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141102

Predicted Effect

probably damaging
Transcript: ENSMUST00000170367
AA Change: S305C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: S305C

Domain	Start	End	E-Value	Type
low complexity region	167	178	N/A	INTRINSIC
coiled coil region	193	272	N/A	INTRINSIC
low complexity region	382	396	N/A	INTRINSIC
coiled coil region	400	434	N/A	INTRINSIC
low complexity region	445	456	N/A	INTRINSIC
HMG	506	576	2.84e-26	SMART
low complexity region	637	659	N/A	INTRINSIC
low complexity region	680	701	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,766,789 (GRCm39)	I57N	probably damaging	Het
Abca15	T	C	7: 119,960,592 (GRCm39)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,222,248 (GRCm39)	V392L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,367,416 (GRCm39)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,355,212 (GRCm39)	L165*	probably null	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Ccdc33	T	C	9: 57,939,991 (GRCm39)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,159,076 (GRCm39)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,233,324 (GRCm39)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,632,518 (GRCm39)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,277,638 (GRCm39)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,547,723 (GRCm39)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,503,660 (GRCm39)	I296F	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dync1h1	T	A	12: 110,629,059 (GRCm39)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,662,674 (GRCm39)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 137,903,187 (GRCm39)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,268,405 (GRCm39)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Frem2	T	A	3: 53,562,294 (GRCm39)	T738S	probably benign	Het
Gm1527	A	T	3: 28,957,539 (GRCm39)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,189,976 (GRCm39)	S84P	unknown	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il1f10	A	T	2: 24,182,817 (GRCm39)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp11	A	T	10: 75,764,191 (GRCm39)	D91E	probably benign	Het
Mpped2	T	C	2: 106,613,989 (GRCm39)	Y108H	probably damaging	Het
Mroh9	A	G	1: 162,866,714 (GRCm39)	V674A	probably damaging	Het
Mtor	G	T	4: 148,565,336 (GRCm39)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 86,055,223 (GRCm39)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,796,361 (GRCm39)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,779 (GRCm39)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,612,296 (GRCm39)	D217V	probably benign	Het
Nphp3	T	C	9: 103,898,493 (GRCm39)	I432T	possibly damaging	Het
Oprd1	T	G	4: 131,840,992 (GRCm39)	D322A	probably damaging	Het
Or10ag2	T	C	2: 87,248,992 (GRCm39)	L198P	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or56a3b	T	G	7: 104,770,751 (GRCm39)	L29R	probably benign	Het
Pcdh10	C	A	3: 45,334,372 (GRCm39)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,653,858 (GRCm39)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Pigc	T	G	1: 161,798,446 (GRCm39)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 21,181,951 (GRCm39)	S490P	possibly damaging	Het
Ppp2r3d	T	A	9: 101,090,092 (GRCm39)	N77I	probably damaging	Het
Pramel17	T	C	4: 101,692,770 (GRCm39)	Y410C	probably damaging	Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prl7a2	A	T	13: 27,843,163 (GRCm39)	C213*	probably null	Het
Prpf8	T	A	11: 75,386,249 (GRCm39)		probably null	Het
Psmd7	A	T	8: 108,311,525 (GRCm39)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,224,549 (GRCm39)	K936E	possibly damaging	Het
Ro60	T	C	1: 143,646,488 (GRCm39)	T86A	probably benign	Het
Ror1	A	T	4: 100,298,700 (GRCm39)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,449,437 (GRCm39)	M322V	probably benign	Het
Scfd2	C	A	5: 74,372,962 (GRCm39)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,899,900 (GRCm39)	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Smarcd1	A	G	15: 99,607,295 (GRCm39)	K382E	probably damaging	Het
Sp5	C	A	2: 70,307,213 (GRCm39)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,336,752 (GRCm39)	F383L	probably damaging	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,052,241 (GRCm39)	T252A	possibly damaging	Het
Vangl2	A	T	1: 171,837,464 (GRCm39)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,296,413 (GRCm39)	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,962,723 (GRCm39)	T281R	probably damaging	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	Het

Other mutations in Sox5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Sox5	APN	6	144,062,198 (GRCm39)	missense	probably damaging	0.96
IGL03217:Sox5	APN	6	143,853,223 (GRCm39)	missense	probably damaging	1.00
Stocking	UTSW	6	144,062,169 (GRCm39)	critical splice donor site	probably null
R0230:Sox5	UTSW	6	144,155,064 (GRCm39)	missense	probably benign	0.02
R0610:Sox5	UTSW	6	143,779,165 (GRCm39)	missense	possibly damaging	0.56
R1162:Sox5	UTSW	6	143,906,538 (GRCm39)	missense	probably damaging	1.00
R1959:Sox5	UTSW	6	143,819,831 (GRCm39)	missense	possibly damaging	0.94
R4057:Sox5	UTSW	6	144,062,248 (GRCm39)	missense	probably damaging	1.00
R4164:Sox5	UTSW	6	144,062,206 (GRCm39)	missense	probably damaging	1.00
R4284:Sox5	UTSW	6	143,781,055 (GRCm39)	missense	probably damaging	1.00
R4430:Sox5	UTSW	6	143,987,000 (GRCm39)	missense	possibly damaging	0.57
R4470:Sox5	UTSW	6	143,790,491 (GRCm39)	missense	possibly damaging	0.54
R4471:Sox5	UTSW	6	143,790,491 (GRCm39)	missense	possibly damaging	0.54
R4672:Sox5	UTSW	6	143,779,075 (GRCm39)	missense	probably damaging	1.00
R4683:Sox5	UTSW	6	143,779,193 (GRCm39)	missense	probably damaging	0.99
R4693:Sox5	UTSW	6	143,781,042 (GRCm39)	missense	probably damaging	1.00
R4735:Sox5	UTSW	6	143,906,561 (GRCm39)	missense	probably damaging	1.00
R4745:Sox5	UTSW	6	143,779,214 (GRCm39)	missense	possibly damaging	0.53
R4762:Sox5	UTSW	6	143,807,109 (GRCm39)	critical splice donor site	probably null
R4996:Sox5	UTSW	6	143,974,070 (GRCm39)	nonsense	probably null
R5218:Sox5	UTSW	6	143,906,616 (GRCm39)	missense	possibly damaging	0.93
R5673:Sox5	UTSW	6	144,062,206 (GRCm39)	missense	probably damaging	1.00
R5856:Sox5	UTSW	6	144,155,088 (GRCm39)	missense	probably damaging	1.00
R6249:Sox5	UTSW	6	143,779,009 (GRCm39)	missense	probably benign	0.33
R6394:Sox5	UTSW	6	143,987,039 (GRCm39)	missense	probably damaging	1.00
R6703:Sox5	UTSW	6	143,779,191 (GRCm39)	missense	probably damaging	1.00
R6812:Sox5	UTSW	6	144,062,169 (GRCm39)	critical splice donor site	probably null
R7312:Sox5	UTSW	6	144,100,759 (GRCm39)	missense	probably benign
R7543:Sox5	UTSW	6	143,786,905 (GRCm39)	missense	probably damaging	0.96
R8110:Sox5	UTSW	6	144,062,200 (GRCm39)	missense	possibly damaging	0.92
R8231:Sox5	UTSW	6	143,974,014 (GRCm39)	missense	probably damaging	0.98
R8250:Sox5	UTSW	6	144,100,777 (GRCm39)	missense	possibly damaging	0.85
R8705:Sox5	UTSW	6	143,987,012 (GRCm39)	missense	possibly damaging	0.50
R8937:Sox5	UTSW	6	143,853,169 (GRCm39)	missense	probably benign	0.00
R9182:Sox5	UTSW	6	143,779,118 (GRCm39)	missense	possibly damaging	0.51
R9193:Sox5	UTSW	6	143,790,570 (GRCm39)	missense	probably benign	0.27
R9740:Sox5	UTSW	6	144,100,947 (GRCm39)	missense	probably damaging	0.98
R9762:Sox5	UTSW	6	143,819,842 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAAGTACTGGCTTTGGGG -3'
(R):5'- CTAGTGACATAAGGGCCTCACG -3'

Sequencing Primer
(F):5'- GGGCATGGACGTGAGATAC -3'
(R):5'- ACATAAGGGCCTCACGGGTTG -3'

Posted On

2014-06-23