Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Sox5'

630804

Institutional Source

Beutler Lab

Gene Symbol

Sox5

Ensembl Gene

ENSMUSG00000041540

Gene Name

SRY (sex determining region Y)-box 5

Synonyms

A730017D01Rik

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143774151-144727703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144062200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 151 (M151V)

Ref Sequence

ENSEMBL: ENSMUSP00000047567 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038815
AA Change: M151V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: M151V

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

possibly damaging
Transcript: ENSMUST00000077160
AA Change: M151V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: M151V

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

probably benign
Transcript: ENSMUST00000111749
AA Change: M116V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
AA Change: M116V

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

possibly damaging
Transcript: ENSMUST00000170367
AA Change: M151V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: M151V

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Or5w11	T	C	2: 87,458,951 (GRCm39)	I48T	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Sharpin	C	A	15: 76,231,965 (GRCm39)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,636,821 (GRCm39)	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,949,099 (GRCm39)	F397V	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,775,131 (GRCm39)	P391R	possibly damaging	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
R1857:Sox5	UTSW	6	143,906,541 (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
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'- AAGGCTCACGTTGCAATGTG -3'
(R):5'- TCTTCTAGGAAGTCGATGGCAATAAAG -3'

Sequencing Primer
(F):5'- ATCTTAGGATCTGTGAGATAGAGATG -3'
(R):5'- GAAGTCGATGGCAATAAAGTTATGTC -3'

Posted On

2020-06-30