Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Sall1'

573744

Institutional Source

Beutler Lab

Gene Symbol

Sall1

Ensembl Gene

ENSMUSG00000031665

Gene Name

spalt like transcription factor 1

Synonyms

Msal-3

MMRRC Submission

045477-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89753867-89770790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89757549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 852 (S852T)

Ref Sequence

ENSEMBL: ENSMUSP00000034090 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034090
AA Change: S852T

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: S852T

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

0.0757

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
4930433I11Rik	A	T	7: 40,639,102 (GRCm39)	T13S	probably damaging	Het
Abca13	A	G	11: 9,241,658 (GRCm39)	I1174V	probably benign	Het
Acoxl	G	A	2: 127,726,336 (GRCm39)	V237M	probably damaging	Het
Adam33	A	C	2: 130,903,089 (GRCm39)	W52G	probably benign	Het
Adgrv1	T	C	13: 81,707,467 (GRCm39)	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,566,716 (GRCm39)	T89A	probably benign	Het
Armc8	T	C	9: 99,415,185 (GRCm39)	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,949 (GRCm39)	*383Q	probably null	Het
Atp8b4	A	T	2: 126,217,614 (GRCm39)	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,649,069 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bicd2	A	G	13: 49,531,706 (GRCm39)	D316G	possibly damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Car11	T	A	7: 45,350,745 (GRCm39)	Y80*	probably null	Het
Ccdc121rt2	A	T	5: 112,598,035 (GRCm39)	E194V	possibly damaging	Het
Ccdc96	T	C	5: 36,642,609 (GRCm39)	I205T	probably benign	Het
Ces2a	A	G	8: 105,466,273 (GRCm39)	E390G	probably benign	Het
Cfap54	C	A	10: 92,720,565 (GRCm39)	V2630L	unknown	Het
Chek2	G	T	5: 111,019,974 (GRCm39)		probably null	Het
Cntn3	C	T	6: 102,314,355 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,528,239 (GRCm39)	D339E	probably damaging	Het
Crocc2	C	T	1: 93,143,829 (GRCm39)	Q1403*	probably null	Het
Crppa	A	T	12: 36,551,994 (GRCm39)	I283F	possibly damaging	Het
Csnka2ip	G	A	16: 64,299,803 (GRCm39)	T187I		Het
Ctu1	A	G	7: 43,326,019 (GRCm39)	H226R	possibly damaging	Het
Cubn	G	T	2: 13,291,875 (GRCm39)	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,659,134 (GRCm39)	L169P	probably benign	Het
Dcc	T	A	18: 71,507,640 (GRCm39)	K911*	probably null	Het
Dcun1d2	G	A	8: 13,328,675 (GRCm39)	R75*	probably null	Het
Defb19	A	T	2: 152,421,943 (GRCm39)		probably null	Het
Dffb	A	T	4: 154,053,570 (GRCm39)	S257R	probably damaging	Het
Dip2c	A	C	13: 9,664,413 (GRCm39)	N942T	probably damaging	Het
Dnah3	T	A	7: 119,565,474 (GRCm39)	I169F		Het
Dnah3	T	C	7: 119,660,183 (GRCm39)	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,269,009 (GRCm39)	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,613,703 (GRCm39)	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,117,905 (GRCm39)	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,206,280 (GRCm39)	I556N	probably damaging	Het
Fry	G	T	5: 150,304,348 (GRCm39)	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,337,800 (GRCm39)	M488K	probably benign	Het
Gnpnat1	T	A	14: 45,619,038 (GRCm39)	H107L	probably benign	Het
Golga2	C	A	2: 32,195,599 (GRCm39)	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,910,929 (GRCm39)	A214T	probably damaging	Het
Greb1	A	T	12: 16,759,431 (GRCm39)		probably null	Het
Hdac10	G	A	15: 89,012,487 (GRCm39)	T32I	probably benign	Het
Hkdc1	G	A	10: 62,221,478 (GRCm39)	T860I	probably damaging	Het
Icam5	C	A	9: 20,946,738 (GRCm39)	P422Q	possibly damaging	Het
Ist1	A	C	8: 110,404,159 (GRCm39)	S238A	probably benign	Het
Lrig2	T	C	3: 104,404,836 (GRCm39)	N91D	probably benign	Het
Mapt	A	C	11: 104,218,949 (GRCm39)	D352A	probably damaging	Het
Micall2	G	A	5: 139,702,124 (GRCm39)	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,761,585 (GRCm39)	S560G	possibly damaging	Het
Mpo	A	G	11: 87,691,950 (GRCm39)	D461G	probably damaging	Het
Myo1a	G	T	10: 127,546,309 (GRCm39)	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,345,188 (GRCm39)	P720S	not run	Het
Ncr1	T	A	7: 4,341,150 (GRCm39)	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730 (GRCm39)	R66C	probably damaging	Het
Obox5	A	T	7: 15,492,668 (GRCm39)	S208C	probably damaging	Het
Or10q1	T	C	19: 13,726,502 (GRCm39)	S11P	probably damaging	Het
Or2n1d	A	T	17: 38,646,755 (GRCm39)	K236*	probably null	Het
Or5p75-ps1	T	A	7: 108,107,611 (GRCm39)	F116Y	unknown	Het
Or7d9	T	A	9: 20,197,826 (GRCm39)	M285K	probably damaging	Het
Padi4	A	C	4: 140,488,983 (GRCm39)	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,025,450 (GRCm39)	D348E	probably damaging	Het
Pdzph1	T	A	17: 59,186,154 (GRCm39)	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,160,634 (GRCm39)	G2341R	probably damaging	Het
Plb1	A	G	5: 32,511,028 (GRCm39)	K1298E	probably benign	Het
Prr14l	A	G	5: 32,985,982 (GRCm39)	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,318,850 (GRCm39)	T680A	probably benign	Het
Rev1	A	T	1: 38,127,146 (GRCm39)	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,799,997 (GRCm39)	C917R	probably damaging	Het
Serpine2	A	G	1: 79,779,272 (GRCm39)	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,182,887 (GRCm39)	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,718,332 (GRCm39)	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,321,475 (GRCm39)	L890Q	probably damaging	Het
Smg5	T	A	3: 88,268,378 (GRCm39)	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,283,899 (GRCm39)	V51A	probably damaging	Het
St14	T	C	9: 31,008,195 (GRCm39)	K547E	probably benign	Het
Stag1	T	G	9: 100,678,781 (GRCm39)	V234G	probably damaging	Het
Stag3	A	T	5: 138,280,207 (GRCm39)	Q24L	probably benign	Het
Stra6	T	C	9: 58,048,380 (GRCm39)	Y158H	probably damaging	Het
Tcstv1a	A	T	13: 120,355,666 (GRCm39)		probably null	Het
Tmem196	G	A	12: 119,975,002 (GRCm39)	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,164,039 (GRCm39)	F84L		Het
Tph1	C	T	7: 46,306,627 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,776,834 (GRCm39)	I1522T	unknown	Het
Ulk4	T	A	9: 121,084,178 (GRCm39)	Q129L	probably benign	Het
Usp17la	T	A	7: 104,510,792 (GRCm39)	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,387,744 (GRCm39)	V609E	probably damaging	Het
Vmn2r52	C	T	7: 9,904,744 (GRCm39)	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,666,937 (GRCm39)	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,259,885 (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
R0555:Sall1	UTSW	8	89,758,386 (GRCm39)	missense	probably benign	0.16
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
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'- TAGACTCTGAGATGGCTGGG -3'
(R):5'- CATATTCGTATGCACATGGGAGG -3'

Sequencing Primer
(F):5'- GCACTCTGGCTCTCCATG -3'
(R):5'- TATGCACATGGGAGGCCAGATC -3'

Posted On

2019-09-13