Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Sall1'

669375

Institutional Source

Beutler Lab

Gene Symbol

Sall1

Ensembl Gene

ENSMUSG00000031665

Gene Name

spalt like transcription factor 1

Synonyms

Msal-3

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89027235-89044162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89032855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 207 (V207E)

Ref Sequence

ENSEMBL: ENSMUSP00000034090 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034090
AA Change: V207E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: V207E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480 (GRCm38)	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369 (GRCm38)	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113 (GRCm38)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930 (GRCm38)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291 (GRCm38)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088 (GRCm38)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412 (GRCm38)	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834 (GRCm38)	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253 (GRCm38)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428 (GRCm38)		probably benign	Het
Bptf	T	A	11: 107,073,314 (GRCm38)	S1685C	probably damaging	Het
Bptf	C	A	11: 107,073,313 (GRCm38)	S1685I	probably damaging	Het
Cacna1c	A	T	6: 118,627,455 (GRCm38)	I1437N		Het
Capn1	T	C	19: 6,011,298 (GRCm38)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117 (GRCm38)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614 (GRCm38)	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580 (GRCm38)		probably null	Het
Ckap5	T	A	2: 91,595,478 (GRCm38)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265 (GRCm38)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801 (GRCm38)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742 (GRCm38)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445 (GRCm38)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292 (GRCm38)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280 (GRCm38)	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371 (GRCm38)	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300 (GRCm38)		probably benign	Het
Exph5	T	A	9: 53,375,796 (GRCm38)	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763 (GRCm38)	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853 (GRCm38)	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212 (GRCm38)	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562 (GRCm38)	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965 (GRCm38)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897 (GRCm38)	C156S		Het
Gm6904	A	T	14: 59,244,813 (GRCm38)	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802 (GRCm38)	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855 (GRCm38)	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935 (GRCm38)	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640 (GRCm38)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335 (GRCm38)	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932 (GRCm38)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm38)		probably null	Het
Itpa	T	A	2: 130,675,719 (GRCm38)	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342 (GRCm38)	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859 (GRCm38)	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391 (GRCm38)		probably benign	Het
Lasp1	A	G	11: 97,806,883 (GRCm38)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763 (GRCm38)	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613 (GRCm38)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809 (GRCm38)	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521 (GRCm38)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm38)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330 (GRCm38)	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542 (GRCm38)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm38)	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422 (GRCm38)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384 (GRCm38)	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796 (GRCm38)		probably benign	Het
Naca	A	T	10: 128,048,074 (GRCm38)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915 (GRCm38)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604 (GRCm38)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773 (GRCm38)		probably null	Het
Olfr1245	C	A	2: 89,575,279 (GRCm38)	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037 (GRCm38)	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944 (GRCm38)	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809 (GRCm38)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197 (GRCm38)	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381 (GRCm38)	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999 (GRCm38)	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533 (GRCm38)	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015 (GRCm38)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553 (GRCm38)		probably benign	Het
Plekhh2	A	T	17: 84,574,993 (GRCm38)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm38)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639 (GRCm38)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866 (GRCm38)	H398R	unknown	Het
Rab26	A	T	17: 24,529,798 (GRCm38)	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864 (GRCm38)		probably benign	Het
Radil	A	G	5: 142,485,449 (GRCm38)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416 (GRCm38)	I65T	probably damaging	Het
Sart3	A	T	5: 113,744,667 (GRCm38)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537 (GRCm38)	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872 (GRCm38)	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952 (GRCm38)	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662 (GRCm38)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651 (GRCm38)	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806 (GRCm38)	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578 (GRCm38)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm38)		probably benign	Het
Tmco3	A	G	8: 13,295,998 (GRCm38)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398 (GRCm38)		probably benign	Het
Trio	T	A	15: 27,732,546 (GRCm38)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090 (GRCm38)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483 (GRCm38)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040 (GRCm38)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425 (GRCm38)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268 (GRCm38)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532 (GRCm38)	V3016L		Het
Wdr11	A	G	7: 129,599,056 (GRCm38)	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092 (GRCm38)		probably benign	Het
Wrn	T	A	8: 33,292,643 (GRCm38)	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277 (GRCm38)		probably null	Het
Zfat	T	A	15: 68,084,429 (GRCm38)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052 (GRCm38)	S62A	probably benign	Het

Other mutations in Sall1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Sall1	APN	8	89,033,344 (GRCm38)	missense	probably damaging	1.00
IGL01670:Sall1	APN	8	89,031,571 (GRCm38)	missense	probably benign	0.01
IGL01795:Sall1	APN	8	89,028,680 (GRCm38)	missense	probably benign	0.02
IGL02041:Sall1	APN	8	89,031,469 (GRCm38)	missense	probably damaging	1.00
IGL02078:Sall1	APN	8	89,030,375 (GRCm38)	missense	probably damaging	0.99
IGL02105:Sall1	APN	8	89,032,568 (GRCm38)	missense	probably damaging	0.99
IGL02354:Sall1	APN	8	89,033,049 (GRCm38)	missense	probably benign	0.10
IGL02727:Sall1	APN	8	89,030,755 (GRCm38)	missense	probably damaging	1.00
IGL02943:Sall1	APN	8	89,031,121 (GRCm38)	missense	probably damaging	0.99
IGL03179:Sall1	APN	8	89,031,661 (GRCm38)	missense	probably benign	0.00
PIT4651001:Sall1	UTSW	8	89,031,103 (GRCm38)	missense	probably damaging	1.00
R0089:Sall1	UTSW	8	89,030,268 (GRCm38)	missense	probably benign	0.09
R0386:Sall1	UTSW	8	89,032,604 (GRCm38)	missense	probably damaging	1.00
R0532:Sall1	UTSW	8	89,033,191 (GRCm38)	missense	probably benign
R0555:Sall1	UTSW	8	89,031,758 (GRCm38)	missense	probably benign	0.16
R1203:Sall1	UTSW	8	89,031,934 (GRCm38)	missense	probably damaging	1.00
R1406:Sall1	UTSW	8	89,032,444 (GRCm38)	missense	probably benign	0.34
R1406:Sall1	UTSW	8	89,032,444 (GRCm38)	missense	probably benign	0.34
R1449:Sall1	UTSW	8	89,032,483 (GRCm38)	missense	probably benign
R1477:Sall1	UTSW	8	89,032,882 (GRCm38)	missense	probably damaging	1.00
R1692:Sall1	UTSW	8	89,028,400 (GRCm38)	missense	probably benign	0.00
R1839:Sall1	UTSW	8	89,028,716 (GRCm38)	missense	possibly damaging	0.89
R2016:Sall1	UTSW	8	89,028,409 (GRCm38)	missense	probably benign	0.10
R2041:Sall1	UTSW	8	89,032,801 (GRCm38)	missense	probably benign
R3808:Sall1	UTSW	8	89,031,473 (GRCm38)	nonsense	probably null
R3816:Sall1	UTSW	8	89,032,675 (GRCm38)	missense	probably benign	0.00
R4085:Sall1	UTSW	8	89,028,509 (GRCm38)	missense	probably benign
R4604:Sall1	UTSW	8	89,030,341 (GRCm38)	missense	probably damaging	1.00
R4701:Sall1	UTSW	8	89,031,160 (GRCm38)	missense	probably damaging	1.00
R5760:Sall1	UTSW	8	89,028,650 (GRCm38)	missense	possibly damaging	0.94
R6091:Sall1	UTSW	8	89,028,619 (GRCm38)	missense	probably damaging	1.00
R6213:Sall1	UTSW	8	89,033,058 (GRCm38)	small deletion	probably benign
R6326:Sall1	UTSW	8	89,030,268 (GRCm38)	missense	probably benign	0.09
R6920:Sall1	UTSW	8	89,030,393 (GRCm38)	missense	probably damaging	1.00
R6954:Sall1	UTSW	8	89,032,891 (GRCm38)	missense	probably damaging	1.00
R7395:Sall1	UTSW	8	89,030,921 (GRCm38)	missense	possibly damaging	0.86
R7396:Sall1	UTSW	8	89,032,768 (GRCm38)	missense	probably damaging	1.00
R7493:Sall1	UTSW	8	89,031,053 (GRCm38)	missense	probably benign	0.32
R7555:Sall1	UTSW	8	89,033,158 (GRCm38)	missense	possibly damaging	0.90
R7672:Sall1	UTSW	8	89,031,299 (GRCm38)	missense	probably damaging	0.99
R7759:Sall1	UTSW	8	89,042,351 (GRCm38)	critical splice donor site	probably null
R7834:Sall1	UTSW	8	89,033,374 (GRCm38)	missense	probably benign	0.42
R8023:Sall1	UTSW	8	89,032,543 (GRCm38)	missense	probably damaging	0.99
R8166:Sall1	UTSW	8	89,028,518 (GRCm38)	missense	probably benign	0.27
R9653:Sall1	UTSW	8	89,030,878 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGATGGGAGCTCAGTGTG -3'
(R):5'- TGAGCGGTGTCACCAACATC -3'

Sequencing Primer
(F):5'- TGGCAGATGTTCGTAAAGTACC -3'
(R):5'- GGTGTCACCAACATCACCAC -3'

Posted On

2021-04-30