Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Sox21'

512269

Institutional Source

Beutler Lab

Gene Symbol

Sox21

Ensembl Gene

ENSMUSG00000061517

Gene Name

SRY (sex determining region Y)-box 21

Synonyms

Sox25

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R6176 (G1)

Quality Score

64.0073

Status

Validated

Chromosome

Chromosomal Location

118470645-118474442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118473040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 3 (K3R)

Ref Sequence

ENSEMBL: ENSMUSP00000127396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170662]

AlphaFold

Q811W0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170662
AA Change: K3R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127396
Gene: ENSMUSG00000061517
AA Change: K3R

Domain	Start	End	E-Value	Type
HMG	7	77	8.41e-29	SMART
low complexity region	110	125	N/A	INTRINSIC
low complexity region	137	166	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	200	221	N/A	INTRINSIC
low complexity region	267	275	N/A	INTRINSIC

Meta Mutation Damage Score

0.0792

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a null mutation display cyclic alopecia, epidermal hyperplasia, enlarged sebaceous glands, and hair shaft and cuticle abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	Het

Other mutations in Sox21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02294:Sox21	APN	14	118,472,950 (GRCm39)	missense	probably benign	0.05
R0027:Sox21	UTSW	14	118,473,029 (GRCm39)	missense	probably benign	0.33
R0157:Sox21	UTSW	14	118,473,354 (GRCm39)	start gained	probably benign
R2980:Sox21	UTSW	14	118,472,962 (GRCm39)	missense	probably damaging	0.96
R3716:Sox21	UTSW	14	118,472,842 (GRCm39)	missense	probably benign	0.05
R3827:Sox21	UTSW	14	118,472,870 (GRCm39)	missense	possibly damaging	0.71
R4543:Sox21	UTSW	14	118,472,548 (GRCm39)	small deletion	probably benign
R4835:Sox21	UTSW	14	118,472,336 (GRCm39)	missense	possibly damaging	0.73
R5776:Sox21	UTSW	14	118,472,656 (GRCm39)	missense	probably damaging	0.98
R6933:Sox21	UTSW	14	118,472,725 (GRCm39)	missense	possibly damaging	0.71
R7836:Sox21	UTSW	14	118,472,729 (GRCm39)	nonsense	probably null
R9585:Sox21	UTSW	14	118,472,993 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATGCTCCTTCATGTGCATGGC -3'
(R):5'- TAGAGCTCGACCAGACAGAC -3'

Sequencing Primer
(F):5'- CTTCATGTGCATGGCTCGCAG -3'
(R):5'- GACCAGACAGACCAAAGCGG -3'

Posted On

2018-04-19