Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Sall1'

45481

Institutional Source

Beutler Lab

Gene Symbol

Sall1

Ensembl Gene

ENSMUSG00000031665

Gene Name

spalt like transcription factor 1

Synonyms

Msal-3

MMRRC Submission

038747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89753867-89770790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89758386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 573 (T573A)

Ref Sequence

ENSEMBL: ENSMUSP00000034090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034090]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034090
AA Change: T573A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: T573A

Domain	Start	End	E-Value	Type
low complexity region	133	152	N/A	INTRINSIC
low complexity region	163	175	N/A	INTRINSIC
low complexity region	229	257	N/A	INTRINSIC
low complexity region	283	309	N/A	INTRINSIC
low complexity region	361	396	N/A	INTRINSIC
ZnF_C2H2	450	472	2.57e-3	SMART
ZnF_C2H2	478	500	3.21e-4	SMART
low complexity region	547	569	N/A	INTRINSIC
ZnF_C2H2	705	727	3.02e0	SMART
ZnF_C2H2	733	755	8.6e-5	SMART
ZnF_C2H2	765	787	1.6e-4	SMART
low complexity region	842	861	N/A	INTRINSIC
ZnF_C2H2	1000	1022	2.91e-2	SMART
ZnF_C2H2	1028	1050	4.94e-5	SMART
ZnF_C2H2	1133	1155	1.38e-3	SMART
ZnF_C2H2	1161	1183	1.22e-4	SMART
low complexity region	1257	1277	N/A	INTRINSIC

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,661,516 (GRCm39)	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,670 (GRCm39)		probably benign	Het
Asap1	A	G	15: 63,966,213 (GRCm39)	L941P	probably damaging	Het
Aurka	G	A	2: 172,209,067 (GRCm39)	R23C	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381 (GRCm39)	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,293,503 (GRCm39)	A418T	possibly damaging	Het
Cplx3	T	C	9: 57,521,384 (GRCm39)	T193A	probably benign	Het
Cpxm2	A	T	7: 131,645,772 (GRCm39)	Y715*	probably null	Het
Csmd1	T	C	8: 16,235,287 (GRCm39)	M1179V	probably benign	Het
Ddx21	A	T	10: 62,423,307 (GRCm39)	F632I	probably damaging	Het
Dnai1	C	A	4: 41,625,335 (GRCm39)	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,225,191 (GRCm39)	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,044,862 (GRCm39)		probably null	Het
Dync1li2	A	T	8: 105,147,297 (GRCm39)	S466T	probably benign	Het
Ears2	T	C	7: 121,647,667 (GRCm39)	T206A	probably benign	Het
Elmod1	A	T	9: 53,838,876 (GRCm39)		probably benign	Het
Eps8l3	C	A	3: 107,799,661 (GRCm39)	D590E	probably benign	Het
Etfdh	A	T	3: 79,513,112 (GRCm39)	H370Q	probably benign	Het
Fam83g	C	A	11: 61,598,489 (GRCm39)	A792E	probably benign	Het
Ffar3	G	T	7: 30,554,962 (GRCm39)	Y119*	probably null	Het
Fosb	G	T	7: 19,041,138 (GRCm39)	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,401,175 (GRCm39)	L3F	probably damaging	Het
Foxo4	A	G	X: 100,298,784 (GRCm39)	K65E	probably damaging	Het
Frem2	A	G	3: 53,424,281 (GRCm39)	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,498,149 (GRCm39)	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927 (GRCm39)	G429C	probably damaging	Het
Gimap1	T	C	6: 48,718,363 (GRCm39)		probably benign	Het
Gnas	A	G	2: 174,140,304 (GRCm39)	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,789,740 (GRCm39)	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781 (GRCm39)		probably benign	Het
H2-M10.5	G	A	17: 37,085,620 (GRCm39)	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,225,222 (GRCm39)	Q412H	probably benign	Het
Hecw1	G	T	13: 14,411,526 (GRCm39)	T1058N	probably damaging	Het
Heph	A	T	X: 95,601,690 (GRCm39)	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,034,514 (GRCm39)	E53A	possibly damaging	Het
Insrr	T	G	3: 87,721,744 (GRCm39)		probably benign	Het
Ipo11	A	T	13: 107,028,969 (GRCm39)	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,276,217 (GRCm39)	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,061,568 (GRCm39)	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,758,868 (GRCm39)	S1027C	probably damaging	Het
Kprp	G	C	3: 92,731,664 (GRCm39)	P462R	unknown	Het
Lrit3	A	T	3: 129,584,945 (GRCm39)	V271D	probably damaging	Het
Map4	T	A	9: 109,808,171 (GRCm39)		probably benign	Het
Mark4	A	C	7: 19,182,598 (GRCm39)		probably benign	Het
Mfsd14b	A	G	13: 65,226,259 (GRCm39)	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,208,227 (GRCm39)	I162N	possibly damaging	Het
Mrpl43	A	T	19: 44,994,391 (GRCm39)		probably benign	Het
Mrpl47	A	G	3: 32,790,842 (GRCm39)	F16S	probably benign	Het
Myh2	G	T	11: 67,069,793 (GRCm39)	G380C	probably damaging	Het
Myo15a	T	C	11: 60,412,464 (GRCm39)	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,467,148 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,390 (GRCm39)	V111A	probably damaging	Het
Nol4l	T	C	2: 153,259,604 (GRCm39)		probably null	Het
Nphp3	C	A	9: 103,900,633 (GRCm39)	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,183,118 (GRCm39)		probably null	Het
Or14c39	A	G	7: 86,344,516 (GRCm39)	N284S	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or52ab7	T	C	7: 102,978,170 (GRCm39)	V159A	probably benign	Het
Or6c2	T	C	10: 129,362,765 (GRCm39)	I223T	possibly damaging	Het
Pex1	A	G	5: 3,656,130 (GRCm39)	E319G	possibly damaging	Het
Pgap6	T	C	17: 26,336,088 (GRCm39)	L130S	probably benign	Het
Phtf1	C	A	3: 103,911,785 (GRCm39)	T709K	probably damaging	Het
Plek2	A	T	12: 78,938,946 (GRCm39)	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,191,926 (GRCm39)	C421*	probably null	Het
Polk	A	C	13: 96,620,687 (GRCm39)	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,328,381 (GRCm39)	S471P	probably damaging	Het
Prickle2	A	T	6: 92,435,546 (GRCm39)	F74L	probably benign	Het
Prl7d1	A	T	13: 27,896,038 (GRCm39)	V113D	probably benign	Het
Prr14	C	T	7: 127,071,267 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ret	A	G	6: 118,155,571 (GRCm39)	V375A	probably damaging	Het
Rora	T	C	9: 69,269,028 (GRCm39)	F41S	probably damaging	Het
Shb	A	G	4: 45,458,321 (GRCm39)	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,569,391 (GRCm39)		probably null	Het
Sltm	T	C	9: 70,493,363 (GRCm39)	F769L	probably damaging	Het
Snx9	T	A	17: 5,968,688 (GRCm39)	M328K	probably damaging	Het
Stk25	G	T	1: 93,552,313 (GRCm39)	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858 (GRCm39)	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,016,169 (GRCm39)	A195T	probably damaging	Het
Tmem217b	A	T	17: 29,738,545 (GRCm39)	F74I	probably benign	Het
Trcg1	C	T	9: 57,149,616 (GRCm39)	T396M	probably damaging	Het
Trim30b	A	G	7: 104,006,505 (GRCm39)	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,209,511 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,727,439 (GRCm39)	H827R	probably damaging	Het
Tut7	A	G	13: 59,948,131 (GRCm39)	V328A	probably benign	Het
Urgcp	T	C	11: 5,667,477 (GRCm39)	E287G	probably damaging	Het
Usp2	G	T	9: 44,004,081 (GRCm39)	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,204,512 (GRCm39)	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,442 (GRCm39)	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,577,952 (GRCm39)	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,129,283 (GRCm39)	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,670,818 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,807,194 (GRCm39)	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,653,028 (GRCm39)		probably benign	Het

Other mutations in Sall1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Sall1	APN	8	89,759,972 (GRCm39)	missense	probably damaging	1.00
IGL01670:Sall1	APN	8	89,758,199 (GRCm39)	missense	probably benign	0.01
IGL01795:Sall1	APN	8	89,755,308 (GRCm39)	missense	probably benign	0.02
IGL02041:Sall1	APN	8	89,758,097 (GRCm39)	missense	probably damaging	1.00
IGL02078:Sall1	APN	8	89,757,003 (GRCm39)	missense	probably damaging	0.99
IGL02105:Sall1	APN	8	89,759,196 (GRCm39)	missense	probably damaging	0.99
IGL02354:Sall1	APN	8	89,759,677 (GRCm39)	missense	probably benign	0.10
IGL02727:Sall1	APN	8	89,757,383 (GRCm39)	missense	probably damaging	1.00
IGL02943:Sall1	APN	8	89,757,749 (GRCm39)	missense	probably damaging	0.99
IGL03179:Sall1	APN	8	89,758,289 (GRCm39)	missense	probably benign	0.00
PIT4651001:Sall1	UTSW	8	89,757,731 (GRCm39)	missense	probably damaging	1.00
R0089:Sall1	UTSW	8	89,756,896 (GRCm39)	missense	probably benign	0.09
R0386:Sall1	UTSW	8	89,759,232 (GRCm39)	missense	probably damaging	1.00
R0532:Sall1	UTSW	8	89,759,819 (GRCm39)	missense	probably benign
R1203:Sall1	UTSW	8	89,758,562 (GRCm39)	missense	probably damaging	1.00
R1406:Sall1	UTSW	8	89,759,072 (GRCm39)	missense	probably benign	0.34
R1406:Sall1	UTSW	8	89,759,072 (GRCm39)	missense	probably benign	0.34
R1449:Sall1	UTSW	8	89,759,111 (GRCm39)	missense	probably benign
R1477:Sall1	UTSW	8	89,759,510 (GRCm39)	missense	probably damaging	1.00
R1692:Sall1	UTSW	8	89,755,028 (GRCm39)	missense	probably benign	0.00
R1839:Sall1	UTSW	8	89,755,344 (GRCm39)	missense	possibly damaging	0.89
R2016:Sall1	UTSW	8	89,755,037 (GRCm39)	missense	probably benign	0.10
R2041:Sall1	UTSW	8	89,759,429 (GRCm39)	missense	probably benign
R3808:Sall1	UTSW	8	89,758,101 (GRCm39)	nonsense	probably null
R3816:Sall1	UTSW	8	89,759,303 (GRCm39)	missense	probably benign	0.00
R4085:Sall1	UTSW	8	89,755,137 (GRCm39)	missense	probably benign
R4604:Sall1	UTSW	8	89,756,969 (GRCm39)	missense	probably damaging	1.00
R4701:Sall1	UTSW	8	89,757,788 (GRCm39)	missense	probably damaging	1.00
R5760:Sall1	UTSW	8	89,755,278 (GRCm39)	missense	possibly damaging	0.94
R6091:Sall1	UTSW	8	89,755,247 (GRCm39)	missense	probably damaging	1.00
R6213:Sall1	UTSW	8	89,759,686 (GRCm39)	small deletion	probably benign
R6326:Sall1	UTSW	8	89,756,896 (GRCm39)	missense	probably benign	0.09
R6920:Sall1	UTSW	8	89,757,021 (GRCm39)	missense	probably damaging	1.00
R6954:Sall1	UTSW	8	89,759,519 (GRCm39)	missense	probably damaging	1.00
R7395:Sall1	UTSW	8	89,757,549 (GRCm39)	missense	possibly damaging	0.86
R7396:Sall1	UTSW	8	89,759,396 (GRCm39)	missense	probably damaging	1.00
R7493:Sall1	UTSW	8	89,757,681 (GRCm39)	missense	probably benign	0.32
R7555:Sall1	UTSW	8	89,759,786 (GRCm39)	missense	possibly damaging	0.90
R7672:Sall1	UTSW	8	89,757,927 (GRCm39)	missense	probably damaging	0.99
R7759:Sall1	UTSW	8	89,768,979 (GRCm39)	critical splice donor site	probably null
R7834:Sall1	UTSW	8	89,760,002 (GRCm39)	missense	probably benign	0.42
R8023:Sall1	UTSW	8	89,759,171 (GRCm39)	missense	probably damaging	0.99
R8166:Sall1	UTSW	8	89,755,146 (GRCm39)	missense	probably benign	0.27
R8708:Sall1	UTSW	8	89,759,483 (GRCm39)	missense	probably damaging	1.00
R9653:Sall1	UTSW	8	89,757,506 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAAAAGGAAACTTGGCCTTGAAC -3'
(R):5'- AGCACTTGGACAATGTCCCCAC -3'

Sequencing Primer
(F):5'- GAAACTTGGCCTTGAACTGCTC -3'
(R):5'- ATGTCCCCACGAGCACC -3'

Posted On

2013-06-11