Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Sall1'

539585

Institutional Source

Beutler Lab

Gene Symbol

Sall1

Ensembl Gene

ENSMUSG00000031665

Gene Name

spalt like transcription factor 1

Synonyms

Msal-3

MMRRC Submission

045040-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R6920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89753867-89770790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89757021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1028 (F1028L)

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: F1028L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: F1028L

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

0.6760

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,773,811 (GRCm39)	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 122,262,160 (GRCm39)		probably null	Het
Aadat	T	C	8: 60,982,467 (GRCm39)	F245L	probably damaging	Het
Adcy10	T	G	1: 165,403,227 (GRCm39)	L1575W	probably damaging	Het
Anks4b	A	T	7: 119,782,231 (GRCm39)	T421S	probably damaging	Het
Anpep	A	T	7: 79,475,097 (GRCm39)	I155N	probably damaging	Het
Arnt	T	C	3: 95,397,932 (GRCm39)	F572L	probably damaging	Het
Brip1	G	A	11: 86,039,362 (GRCm39)	Q391*	probably null	Het
Brpf3	C	A	17: 29,042,970 (GRCm39)	H1004N	probably benign	Het
Cand2	T	A	6: 115,768,250 (GRCm39)	V465D	possibly damaging	Het
Card10	G	T	15: 78,686,609 (GRCm39)	Y69*	probably null	Het
Catsperd	A	T	17: 56,962,175 (GRCm39)	K450*	probably null	Het
Ccdc137	T	C	11: 120,351,009 (GRCm39)	L137P	probably damaging	Het
Cic	T	C	7: 24,990,107 (GRCm39)	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,507,601 (GRCm39)	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,379,496 (GRCm39)	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,396 (GRCm39)	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,358,310 (GRCm39)	K214R	unknown	Het
Fam180a	T	G	6: 35,290,765 (GRCm39)	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,168,986 (GRCm39)	H51N	probably benign	Het
Gm12728	T	G	4: 105,647,533 (GRCm39)		probably null	Het
Gm973	T	C	1: 59,591,620 (GRCm39)	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,179,770 (GRCm39)	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,340,083 (GRCm39)		probably null	Het
Htt	T	G	5: 35,034,444 (GRCm39)	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,412,116 (GRCm39)	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,576,602 (GRCm39)		probably null	Het
Klc1	T	C	12: 111,754,019 (GRCm39)	S105P	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,798,701 (GRCm39)	D469G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Mboat4	G	A	8: 34,591,865 (GRCm39)	R434H	probably benign	Het
Mttp	T	C	3: 137,821,043 (GRCm39)	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,347,035 (GRCm39)	C337Y	possibly damaging	Het
Nars1	A	G	18: 64,634,471 (GRCm39)	V484A	probably damaging	Het
Noxa1	G	T	2: 24,981,844 (GRCm39)		probably null	Het
Or14c45	A	G	7: 86,176,522 (GRCm39)	T186A	probably benign	Het
Or7g18	T	A	9: 18,786,821 (GRCm39)	L63H	probably damaging	Het
Osbpl7	G	A	11: 96,941,584 (GRCm39)	G36S	probably damaging	Het
P4htm	C	T	9: 108,460,812 (GRCm39)	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,848,199 (GRCm39)	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,015,795 (GRCm39)	E250K	possibly damaging	Het
Plcd4	A	G	1: 74,604,994 (GRCm39)		probably benign	Het
Ppfia3	C	A	7: 45,008,231 (GRCm39)	G213V	possibly damaging	Het
Ppp1r1a	A	G	15: 103,441,513 (GRCm39)	S67P	probably damaging	Het
Prss43	T	C	9: 110,657,680 (GRCm39)	F193S	probably benign	Het
Rfx1	A	G	8: 84,822,117 (GRCm39)	Y872C	probably damaging	Het
Rhot1	T	A	11: 80,132,921 (GRCm39)	N218K	probably benign	Het
Siglec1	G	A	2: 130,919,997 (GRCm39)	Q845*	probably null	Het
Slc38a9	C	T	13: 112,838,060 (GRCm39)	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,497,470 (GRCm39)	S481T	probably damaging	Het
Ssr1	A	T	13: 38,169,998 (GRCm39)	N191K	probably damaging	Het
Tenm4	A	T	7: 96,544,757 (GRCm39)	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,507,645 (GRCm39)	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,576,494 (GRCm39)	T119M	probably benign	Het
Traip	C	T	9: 107,838,240 (GRCm39)	R142*	probably null	Het
Utrn	T	C	10: 12,626,214 (GRCm39)	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,581,575 (GRCm39)	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,273,108 (GRCm39)	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,996,912 (GRCm39)	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,285,510 (GRCm39)	N110S	probably damaging	Het
Vwce	A	G	19: 10,642,057 (GRCm39)	T928A	probably benign	Het
Zfp608	T	A	18: 55,121,337 (GRCm39)	K83N	probably damaging	Het
Zfp808	A	G	13: 62,320,982 (GRCm39)	H737R	probably benign	Het
Zswim4	T	C	8: 84,940,714 (GRCm39)	N795S	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
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'- AGCCGTTGACCTCTGTTTTG -3'
(R):5'- GCCAATGGTCTATCTCCCAC -3'

Sequencing Primer
(F):5'- ACCTCTGTTTTGATGAGAGATGACAG -3'
(R):5'- AACGGAGGTGCTTTGGAC -3'

Posted On

2018-11-06