Mutagenetix > Incidental Mutation

Incidental Mutation 'R4762:Sox5'

356957

Institutional Source

Beutler Lab

Gene Symbol

Sox5

Ensembl Gene

ENSMUSG00000041540

Gene Name

SRY (sex determining region Y)-box 5

Synonyms

A730017D01Rik

MMRRC Submission

042403-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143774151-144727703 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 143807109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038815] [ENSMUST00000077160] [ENSMUST00000111748] [ENSMUST00000111749] [ENSMUST00000124233] [ENSMUST00000144289] [ENSMUST00000170367]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000038815

SMART Domains

Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540

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 null
Transcript: ENSMUST00000077160

SMART Domains

Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540

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

noncoding transcript
Transcript: ENSMUST00000111746

SMART Domains

Protein: ENSMUSP00000107375
Gene: ENSMUSG00000041540

Domain	Start	End	E-Value	Type
low complexity region	60	74	N/A	INTRINSIC
coiled coil region	78	112	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
HMG	184	234	1.72e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111748

SMART Domains

Protein: ENSMUSP00000107377
Gene: ENSMUSG00000041540

Domain	Start	End	E-Value	Type
low complexity region	60	74	N/A	INTRINSIC
coiled coil region	78	112	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
HMG	184	254	2.84e-26	SMART
low complexity region	315	337	N/A	INTRINSIC
low complexity region	358	379	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111749

SMART Domains

Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540

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

probably benign
Transcript: ENSMUST00000124233

SMART Domains

Protein: ENSMUSP00000114602
Gene: ENSMUSG00000041540

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	89	103	N/A	INTRINSIC
coiled coil region	107	141	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141102

Predicted Effect

probably null
Transcript: ENSMUST00000144289

SMART Domains

Protein: ENSMUSP00000122786
Gene: ENSMUSG00000041540

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	109	123	N/A	INTRINSIC
coiled coil region	127	161	N/A	INTRINSIC
low complexity region	172	183	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170367

SMART Domains

Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540

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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	T	C	1: 158,797,126 (GRCm39)		noncoding transcript	Het
2310030G06Rik	T	C	9: 50,651,967 (GRCm39)	E87G	probably damaging	Het
Aknad1	A	T	3: 108,682,547 (GRCm39)	H541L	possibly damaging	Het
Asb15	A	G	6: 24,567,236 (GRCm39)	E519G	possibly damaging	Het
Atad2	T	C	15: 57,971,758 (GRCm39)	D373G	probably benign	Het
Bbs12	G	A	3: 37,374,529 (GRCm39)	V326M	probably damaging	Het
Birc6	T	C	17: 74,936,484 (GRCm39)	I2617T	probably damaging	Het
Brca2	A	G	5: 150,454,581 (GRCm39)	T115A	probably benign	Het
Casz1	T	C	4: 149,023,438 (GRCm39)	L495P	probably damaging	Het
Ccdc30	T	A	4: 119,190,785 (GRCm39)	I481F	probably damaging	Het
Cept1	A	T	3: 106,446,677 (GRCm39)	Y56*	probably null	Het
Cfap54	A	C	10: 92,897,315 (GRCm39)		probably null	Het
Cyp2j8	G	T	4: 96,358,886 (GRCm39)	D344E	probably damaging	Het
Dido1	A	T	2: 180,331,368 (GRCm39)	W27R	probably damaging	Het
Disp3	A	G	4: 148,356,575 (GRCm39)	I95T	probably damaging	Het
Engase	G	T	11: 118,377,920 (GRCm39)	V237F	possibly damaging	Het
Ephb6	G	A	6: 41,595,094 (GRCm39)	E703K	probably damaging	Het
Fnip1	T	A	11: 54,356,997 (GRCm39)	F35L	probably damaging	Het
Fnip1	A	T	11: 54,390,352 (GRCm39)	T440S	probably benign	Het
Fras1	T	A	5: 96,879,477 (GRCm39)	H2431Q	probably benign	Het
Fzd4	A	T	7: 89,056,924 (GRCm39)	T324S	probably damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gpr84	A	T	15: 103,217,027 (GRCm39)	V350E	probably damaging	Het
Gsto2	T	C	19: 47,863,312 (GRCm39)	Y63H	probably damaging	Het
Gtpbp6	T	C	5: 110,252,186 (GRCm39)	T449A	probably damaging	Het
Herc2	G	A	7: 55,820,388 (GRCm39)	V2876I	probably benign	Het
Hnrnpa3	A	G	2: 75,492,351 (GRCm39)	I152V	possibly damaging	Het
Hpse2	T	C	19: 42,777,510 (GRCm39)	D552G	possibly damaging	Het
Itfg1	A	G	8: 86,459,070 (GRCm39)	V460A	possibly damaging	Het
Jhy	G	A	9: 40,822,494 (GRCm39)	A548V	probably benign	Het
Klhl21	T	A	4: 152,094,268 (GRCm39)	L290Q	possibly damaging	Het
Knl1	T	C	2: 118,902,417 (GRCm39)	S1373P	probably benign	Het
Kpna2	A	C	11: 106,881,085 (GRCm39)	M426R	probably benign	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Lpar1	T	G	4: 58,437,346 (GRCm39)	H361P	possibly damaging	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Mfsd13b	T	C	7: 120,590,549 (GRCm39)	F97L	probably damaging	Het
Mmp15	A	G	8: 96,098,958 (GRCm39)	K595R	probably benign	Het
Mrps25	C	T	6: 92,152,085 (GRCm39)	G145D	probably damaging	Het
Muc4	T	A	16: 32,574,916 (GRCm39)		probably benign	Het
Napa	A	T	7: 15,849,196 (GRCm39)	K245N	probably benign	Het
Or10p1	C	A	10: 129,444,043 (GRCm39)	M102I	probably damaging	Het
Or14c39	A	G	7: 86,344,329 (GRCm39)	T222A	probably benign	Het
Or2y1c	A	T	11: 49,361,112 (GRCm39)	I45F	probably damaging	Het
Or4g17	G	A	2: 111,210,082 (GRCm39)	V246M	probably damaging	Het
Or4k39	T	A	2: 111,239,225 (GRCm39)		noncoding transcript	Het
Or5au1	T	A	14: 52,272,921 (GRCm39)	I216F	possibly damaging	Het
Or8c20	A	G	9: 38,260,577 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,381 (GRCm39)	S264P	possibly damaging	Het
Papss2	A	T	19: 32,616,378 (GRCm39)	T195S	probably benign	Het
Parp4	T	A	14: 56,848,267 (GRCm39)	H694Q	probably damaging	Het
Patj	C	T	4: 98,293,807 (GRCm39)	R20*	probably null	Het
Pcdhgb8	T	A	18: 37,895,419 (GRCm39)	V163E	probably damaging	Het
Pkd2l1	T	A	19: 44,144,060 (GRCm39)	T338S	probably benign	Het
Ppargc1b	A	T	18: 61,444,328 (GRCm39)	S278R	possibly damaging	Het
Ppl	T	C	16: 4,906,846 (GRCm39)	T1150A	probably benign	Het
Ralgds	A	G	2: 28,442,164 (GRCm39)	D858G	probably damaging	Het
Rassf2	G	A	2: 131,844,783 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,240,971 (GRCm39)		probably benign	Het
Rusc1	A	C	3: 88,998,949 (GRCm39)	S278A	probably benign	Het
Samd9l	T	C	6: 3,375,623 (GRCm39)	N546S	probably benign	Het
Sct	A	C	7: 140,858,954 (GRCm39)		probably benign	Het
Slc22a12	T	G	19: 6,588,474 (GRCm39)	H348P	probably benign	Het
Slc25a15	A	G	8: 22,873,248 (GRCm39)	S143P	probably damaging	Het
Slc26a11	C	A	11: 119,247,657 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,427,625 (GRCm39)	M428T	probably damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Smoc1	G	T	12: 81,214,425 (GRCm39)	W269L	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Sptbn5	T	A	2: 119,907,703 (GRCm39)		noncoding transcript	Het
Sun5	G	A	2: 153,707,283 (GRCm39)	R132*	probably null	Het
Tedc2	A	G	17: 24,435,354 (GRCm39)	V345A	probably benign	Het
Tlr6	T	A	5: 65,111,739 (GRCm39)	R389S	probably benign	Het
Ttc17	G	T	2: 94,202,113 (GRCm39)	H396Q	probably damaging	Het
Ttn	A	G	2: 76,773,383 (GRCm39)	S2340P	probably damaging	Het
Vmn1r219	C	T	13: 23,346,999 (GRCm39)	Q63*	probably null	Het
Vmn1r224	A	G	17: 20,639,902 (GRCm39)	T160A	possibly damaging	Het
Vmn2r11	T	C	5: 109,195,436 (GRCm39)	N630S	probably damaging	Het
Zfp1005	T	A	2: 150,109,549 (GRCm39)	C80S	possibly damaging	Het
Zfp747	A	G	7: 126,973,498 (GRCm39)	V224A	possibly damaging	Het
Zfp804b	T	C	5: 6,822,250 (GRCm39)	N271S	probably benign	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
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'- ACGGCTGTGTTCATCCCTAG -3'
(R):5'- GTAATGACCAAAACTCAGCTTCTCC -3'

Sequencing Primer
(F):5'- CCTAGTAAGGTCTGGGGATGCAC -3'
(R):5'- CATGCACTTGGTACATCTATTGTG -3'

Posted On

2015-11-11