Mutagenetix > Incidental Mutation

Incidental Mutation 'R9622:Sanbr'

724891

Institutional Source

Beutler Lab

Gene Symbol

Sanbr

Ensembl Gene

ENSMUSG00000042208

Gene Name

SANT and BTB domain regulator of CSR

Synonyms

0610010F05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R9622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23514961-23583639 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23534590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 589 (K589I)

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043356
AA Change: K589I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: K589I

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093267
AA Change: K443I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: K443I

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	303	7.7e-107	PFAM
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	450	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109532
AA Change: K589I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: K589I

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123909
AA Change: K95I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208
AA Change: K95I

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155903
AA Change: K589I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: K589I

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	1e-106	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180260
AA Change: K589I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: K589I

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	4.5e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	G	5: 36,006,889 (GRCm39)	K435E	probably damaging	Het
Acly	T	C	11: 100,395,785 (GRCm39)	T412A	probably damaging	Het
Aldh3b2	T	A	19: 4,029,489 (GRCm39)	D287E	probably benign	Het
Asphd1	G	A	7: 126,547,974 (GRCm39)	P110S		Het
Atg7	T	C	6: 114,654,993 (GRCm39)	L142P	probably benign	Het
Atp13a4	T	C	16: 29,239,277 (GRCm39)	I796V		Het
Bbx	A	G	16: 50,095,022 (GRCm39)	V98A	probably damaging	Het
Brca2	T	C	5: 150,480,410 (GRCm39)	S2727P	probably damaging	Het
Camk1	T	A	6: 113,318,850 (GRCm39)	D21V	possibly damaging	Het
Cdc5l	A	T	17: 45,715,709 (GRCm39)	D634E	probably benign	Het
Cfap418	T	C	4: 10,893,304 (GRCm39)	I141T	possibly damaging	Het
Cyfip1	A	T	7: 55,528,853 (GRCm39)	D275V	possibly damaging	Het
Cyp4a30b	A	G	4: 115,328,162 (GRCm39)	E477G	probably damaging	Het
Cyp4f16	C	T	17: 32,769,246 (GRCm39)	P379S	probably damaging	Het
Dchs2	C	T	3: 83,263,766 (GRCm39)	Q3345*	probably null	Het
Dnaaf1	A	G	8: 120,315,001 (GRCm39)	T270A	possibly damaging	Het
Dnah3	A	G	7: 119,561,356 (GRCm39)	V334A		Het
Dnhd1	T	C	7: 105,353,342 (GRCm39)	F2832L	probably benign	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Eif4enif1	T	C	11: 3,165,714 (GRCm39)	I97T	probably benign	Het
Elmo1	C	G	13: 20,392,310 (GRCm39)	P29A	probably benign	Het
Erich6	G	C	3: 58,544,162 (GRCm39)	P142A	possibly damaging	Het
Fam135b	T	C	15: 71,397,686 (GRCm39)	R125G	probably damaging	Het
Fcrla	T	A	1: 170,749,808 (GRCm39)	H83L	probably damaging	Het
Flt3	C	T	5: 147,303,841 (GRCm39)	E366K	possibly damaging	Het
Gabbr2	C	T	4: 46,724,283 (GRCm39)		probably null	Het
Gigyf1	T	A	5: 137,522,926 (GRCm39)	L809*	probably null	Het
Glg1	C	T	8: 111,899,133 (GRCm39)	G711R	probably damaging	Het
Gp1bb	T	C	16: 18,439,527 (GRCm39)	E189G	probably benign	Het
H2-Q1	A	T	17: 35,542,532 (GRCm39)	I326F	probably benign	Het
Hoxb3	A	T	11: 96,235,420 (GRCm39)	K116*	probably null	Het
Kcnb1	T	C	2: 167,030,161 (GRCm39)	Y128C	probably damaging	Het
Kif5b	G	A	18: 6,225,672 (GRCm39)	R171C	probably damaging	Het
Lcn4	G	A	2: 26,561,228 (GRCm39)	Q18*	probably null	Het
Lrp1b	G	A	2: 40,779,354 (GRCm39)	Q2677*	probably null	Het
Map4k3	T	A	17: 80,958,538 (GRCm39)	T145S	probably damaging	Het
Mas1	T	C	17: 13,060,898 (GRCm39)	E175G	probably benign	Het
Metap2	T	C	10: 93,707,366 (GRCm39)	T202A	probably benign	Het
Mras	A	T	9: 99,275,054 (GRCm39)	M131K	probably benign	Het
Mtor	T	C	4: 148,568,169 (GRCm39)	V1092A	probably damaging	Het
Mug2	T	C	6: 122,028,751 (GRCm39)	S582P	probably benign	Het
Myo5b	A	G	18: 74,848,017 (GRCm39)	N1085S	probably damaging	Het
Nav3	T	C	10: 109,603,103 (GRCm39)	T1149A	probably benign	Het
Nipbl	A	T	15: 8,366,373 (GRCm39)	S1239T	probably benign	Het
Nkpd1	C	A	7: 19,257,867 (GRCm39)	R549S	probably benign	Het
Or10a3m	T	A	7: 108,312,677 (GRCm39)	M39K	probably benign	Het
Or10p1	G	A	10: 129,444,084 (GRCm39)	H89Y	probably benign	Het
Or1j1	A	G	2: 36,702,621 (GRCm39)	L161P	probably damaging	Het
Or51i2	T	A	7: 103,689,522 (GRCm39)	V173D	probably damaging	Het
Pcdh18	T	C	3: 49,711,229 (GRCm39)	N29D	probably benign	Het
Pdzrn4	T	C	15: 92,294,949 (GRCm39)	W52R	probably benign	Het
Plekhb1	T	C	7: 100,304,588 (GRCm39)	K39E	probably damaging	Het
Pramel28	A	G	4: 143,692,348 (GRCm39)	S218P	probably benign	Het
Psmb4	C	A	3: 94,792,285 (GRCm39)	E212D	probably benign	Het
Rcc1l	A	G	5: 134,205,348 (GRCm39)	L69P	probably damaging	Het
Robo2	T	C	16: 73,729,952 (GRCm39)	R1082G	probably benign	Het
Rorb	T	C	19: 18,955,115 (GRCm39)	Y167C	probably damaging	Het
Sbsn	GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG	GG	7: 30,452,067 (GRCm39)		probably benign	Het
Scaf8	T	A	17: 3,248,170 (GRCm39)	F1164L	probably benign	Het
Scn10a	A	T	9: 119,438,046 (GRCm39)	M1940K	probably benign	Het
Serpinb2	A	G	1: 107,452,298 (GRCm39)	N292S	probably benign	Het
Sparcl1	C	A	5: 104,234,998 (GRCm39)	V506L	possibly damaging	Het
Stt3a	A	G	9: 36,661,025 (GRCm39)	V262A	possibly damaging	Het
Syt17	C	A	7: 118,036,191 (GRCm39)	M58I	probably benign	Het
Tas2r134	A	C	2: 51,518,358 (GRCm39)	N279T	possibly damaging	Het
Tbc1d2	T	C	4: 46,609,065 (GRCm39)	E724G	probably damaging	Het
Teddm1b	T	A	1: 153,750,620 (GRCm39)	L143Q		Het
Tlk1	T	A	2: 70,617,281 (GRCm39)	R66S	probably damaging	Het
Tmem139	A	T	6: 42,240,176 (GRCm39)		probably null	Het
Tom1l2	T	C	11: 60,151,942 (GRCm39)	Y155C	possibly damaging	Het
Trmt1l	C	A	1: 151,304,710 (GRCm39)	S28*	probably null	Het
Ttf2	T	C	3: 100,859,918 (GRCm39)	I679V	probably benign	Het
Unc13b	T	G	4: 43,172,513 (GRCm39)	F1114V		Het
Vmn2r25	T	A	6: 123,816,579 (GRCm39)	D334V	probably damaging	Het
Vps13c	T	G	9: 67,856,715 (GRCm39)	Y2581D	probably damaging	Het
Xkr5	A	G	8: 18,984,247 (GRCm39)	S432P	probably benign	Het
Zc2hc1b	G	A	10: 13,043,677 (GRCm39)	P73S	possibly damaging	Het
Zfhx2	A	C	14: 55,303,483 (GRCm39)	F1500L	probably benign	Het
Zfp3	T	G	11: 70,662,739 (GRCm39)	S233A	possibly damaging	Het
Zmat5	T	C	11: 4,687,453 (GRCm39)	W169R	probably damaging	Het

Other mutations in Sanbr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Sanbr	APN	11	23,545,434 (GRCm39)	missense	probably damaging	1.00
IGL01444:Sanbr	APN	11	23,570,225 (GRCm39)	splice site	probably benign
IGL01522:Sanbr	APN	11	23,532,865 (GRCm39)	critical splice donor site	probably null
IGL01819:Sanbr	APN	11	23,534,561 (GRCm39)	missense	probably benign	0.29
IGL02470:Sanbr	APN	11	23,565,222 (GRCm39)	missense	probably damaging	0.99
IGL03046:Sanbr	UTSW	11	23,565,150 (GRCm39)	missense	possibly damaging	0.77
R0139:Sanbr	UTSW	11	23,570,214 (GRCm39)	splice site	probably benign
R0334:Sanbr	UTSW	11	23,567,129 (GRCm39)	splice site	probably benign
R0646:Sanbr	UTSW	11	23,525,491 (GRCm39)	missense	probably damaging	0.99
R1078:Sanbr	UTSW	11	23,561,762 (GRCm39)	missense	probably benign	0.45
R1263:Sanbr	UTSW	11	23,570,278 (GRCm39)	nonsense	probably null
R1471:Sanbr	UTSW	11	23,565,222 (GRCm39)	missense	probably damaging	0.99
R1568:Sanbr	UTSW	11	23,539,971 (GRCm39)	missense	probably damaging	1.00
R2163:Sanbr	UTSW	11	23,526,826 (GRCm39)	splice site	probably benign
R2318:Sanbr	UTSW	11	23,538,701 (GRCm39)	missense	probably damaging	1.00
R2426:Sanbr	UTSW	11	23,526,801 (GRCm39)	missense	probably damaging	1.00
R4373:Sanbr	UTSW	11	23,565,265 (GRCm39)	splice site	probably null
R4688:Sanbr	UTSW	11	23,543,449 (GRCm39)	missense	probably benign
R4816:Sanbr	UTSW	11	23,565,243 (GRCm39)	missense	possibly damaging	0.67
R5046:Sanbr	UTSW	11	23,570,354 (GRCm39)	missense	probably benign	0.23
R5156:Sanbr	UTSW	11	23,543,424 (GRCm39)	critical splice donor site	probably null
R5249:Sanbr	UTSW	11	23,525,483 (GRCm39)	makesense	probably null
R5615:Sanbr	UTSW	11	23,556,759 (GRCm39)	missense	probably damaging	0.96
R6758:Sanbr	UTSW	11	23,538,475 (GRCm39)	splice site	probably null
R6860:Sanbr	UTSW	11	23,575,100 (GRCm39)	missense	probably damaging	1.00
R6910:Sanbr	UTSW	11	23,570,447 (GRCm39)	missense	probably damaging	0.99
R7255:Sanbr	UTSW	11	23,570,465 (GRCm39)	missense	probably benign	0.41
R7286:Sanbr	UTSW	11	23,572,479 (GRCm39)	missense	probably benign	0.07
R7603:Sanbr	UTSW	11	23,516,191 (GRCm39)	missense	probably benign
R7618:Sanbr	UTSW	11	23,534,550 (GRCm39)	missense	possibly damaging	0.91
R7717:Sanbr	UTSW	11	23,556,757 (GRCm39)	missense	probably benign	0.05
R8110:Sanbr	UTSW	11	23,526,764 (GRCm39)	missense	probably benign
R8677:Sanbr	UTSW	11	23,545,471 (GRCm39)	missense	probably benign	0.24
R9165:Sanbr	UTSW	11	23,565,244 (GRCm39)	missense	probably benign	0.00
R9175:Sanbr	UTSW	11	23,534,518 (GRCm39)	critical splice donor site	probably null
R9526:Sanbr	UTSW	11	23,559,098 (GRCm39)	missense	probably damaging	1.00
R9583:Sanbr	UTSW	11	23,531,642 (GRCm39)	missense	possibly damaging	0.69
X0026:Sanbr	UTSW	11	23,526,767 (GRCm39)	missense	probably benign	0.00
X0067:Sanbr	UTSW	11	23,543,420 (GRCm39)	splice site	probably null
Z1177:Sanbr	UTSW	11	23,574,960 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- AAGGTCCCACATCTTCCAGAGTC -3'
(R):5'- TGCAGCAGCTTCATTCTGAC -3'

Sequencing Primer
(F):5'- GAGTCTCATCCACTAACACTGCTCG -3'
(R):5'- AGCAGCTTCATTCTGACTTCCTG -3'

Posted On

2022-09-12