Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Sanbr'

696005

Institutional Source

Beutler Lab

Gene Symbol

Sanbr

Ensembl Gene

ENSMUSG00000042208

Gene Name

SANT and BTB domain regulator of CSR

Synonyms

0610010F05Rik

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

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

Stock #

R9165 (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 C at 23565244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 248 (I248V)

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

probably benign
Transcript: ENSMUST00000043356
AA Change: I248V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: I248V

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 benign
Transcript: ENSMUST00000093267
AA Change: I102V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: I102V

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 benign
Transcript: ENSMUST00000109532
AA Change: I248V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: I248V

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 benign
Transcript: ENSMUST00000141353
AA Change: I102V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121553
Gene: ENSMUSG00000042208
AA Change: I102V

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	189	7.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155903
AA Change: I248V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: I248V

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 benign
Transcript: ENSMUST00000180260
AA Change: I248V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: I248V

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bnc2	A	T	4: 84,329,731 (GRCm39)	L95Q		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cep104	T	A	4: 154,078,971 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
F10	T	C	8: 13,089,564 (GRCm39)	F60L	probably benign	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,666,676 (GRCm39)	R580L	probably benign	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vps33b	G	A	7: 79,924,434 (GRCm39)		probably null	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly damaging	Het
Zmym2	A	T	14: 57,185,464 (GRCm39)	Y1032F	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
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
R9622:Sanbr	UTSW	11	23,534,590 (GRCm39)	missense	probably damaging	0.99
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'- TTAACACAGCTCATTACCACCATATAT -3'
(R):5'- CCTTCTACAGTCATTCAAAGTACATT -3'

Sequencing Primer
(F):5'- GTAAGTGGTTTCCTGACATCCACATG -3'
(R):5'- GCAAAACCCAGTTACTGG -3'

Posted On

2022-02-07