Mutagenetix > Incidental Mutation

Incidental Mutation 'R6213:Sall1'

503570

Institutional Source

Beutler Lab

Gene Symbol

Sall1

Ensembl Gene

ENSMUSG00000031665

Gene Name

spalt like transcription factor 1

Synonyms

Msal-3

MMRRC Submission

044346-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R6213 (G1)

Quality Score

124.467

Status

Not validated

Chromosome

Chromosomal Location

89753867-89770790 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AGTGGTGGTGGTGGTGGTGGTGG to AGTGGTGGTGGTGGTGGTGG at 89759686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665

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: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,218,762 (GRCm39)	Y207H	probably damaging	Het
Adcy7	G	A	8: 89,040,765 (GRCm39)	V335M	probably damaging	Het
Apol11b	A	C	15: 77,522,200 (GRCm39)	D32E	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdkn1b	T	A	6: 134,898,206 (GRCm39)	D108E	probably benign	Het
Cep290	A	G	10: 100,359,222 (GRCm39)	D984G	probably benign	Het
Csde1	T	C	3: 102,947,830 (GRCm39)	V128A	probably damaging	Het
Csmd3	A	G	15: 47,492,656 (GRCm39)	S3162P	probably damaging	Het
D5Ertd579e	G	A	5: 36,759,978 (GRCm39)	T1394I	probably damaging	Het
Ddx6	T	A	9: 44,539,990 (GRCm39)	L306Q	probably damaging	Het
Dmxl1	T	A	18: 49,996,082 (GRCm39)	S403T	possibly damaging	Het
F11	G	T	8: 45,694,537 (GRCm39)	T608K	probably damaging	Het
Flrt3	C	T	2: 140,503,085 (GRCm39)	R181H	probably damaging	Het
Hs3st1	A	T	5: 39,771,864 (GRCm39)	C260S	probably damaging	Het
Ighv7-1	A	T	12: 113,860,141 (GRCm39)	S84T	probably damaging	Het
Inpp4b	A	G	8: 82,724,019 (GRCm39)	D332G	probably damaging	Het
Irf2bpl	T	C	12: 86,930,367 (GRCm39)	Q102R	probably benign	Het
Itpr3	T	A	17: 27,330,174 (GRCm39)	D1597E	probably benign	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Lypd8	A	G	11: 58,281,160 (GRCm39)	T241A	probably benign	Het
Map1lc3a	T	C	2: 155,118,935 (GRCm39)		probably null	Het
Mast1	G	A	8: 85,642,198 (GRCm39)	T1052I	probably damaging	Het
Muc2	T	C	7: 141,305,151 (GRCm39)	C152R	probably damaging	Het
Muc5b	A	T	7: 141,415,903 (GRCm39)	M2950L	probably benign	Het
Muc5b	A	G	7: 141,421,356 (GRCm39)	D4282G	possibly damaging	Het
Myo16	G	T	8: 10,420,963 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,734,541 (GRCm39)	F708I	probably damaging	Het
Nadsyn1	A	T	7: 143,353,549 (GRCm39)	F558Y	probably benign	Het
Nat9	A	T	11: 115,075,932 (GRCm39)	W30R	probably damaging	Het
Nipbl	A	G	15: 8,364,390 (GRCm39)	L1338S	probably damaging	Het
Nipsnap3b	A	G	4: 53,017,066 (GRCm39)	T97A	probably benign	Het
Npepps	A	T	11: 97,132,823 (GRCm39)	Y301*	probably null	Het
Nrcam	C	T	12: 44,609,215 (GRCm39)	P447S	possibly damaging	Het
Or14c41	A	G	7: 86,234,485 (GRCm39)	M1V	probably null	Het
Or1o4	T	C	17: 37,591,264 (GRCm39)	S16G	probably benign	Het
Or2a14	A	G	6: 43,130,821 (GRCm39)	N194S	possibly damaging	Het
Or52b4	T	C	7: 102,184,139 (GRCm39)	Y62H	probably damaging	Het
Pacsin3	G	T	2: 91,090,779 (GRCm39)	V29F	probably damaging	Het
Pdzrn3	A	C	6: 101,354,805 (GRCm39)	D15E	probably damaging	Het
Phf20l1	T	C	15: 66,504,752 (GRCm39)		probably null	Het
Pign	A	C	1: 105,516,991 (GRCm39)	V545G	possibly damaging	Het
Pkhd1	T	C	1: 20,593,994 (GRCm39)	N1373S	possibly damaging	Het
Ptchd4	T	A	17: 42,688,251 (GRCm39)	H264Q	probably benign	Het
Ptpn3	G	T	4: 57,265,012 (GRCm39)	Q73K	probably damaging	Het
Ptrh1	G	A	2: 32,666,757 (GRCm39)	V109I	probably benign	Het
Reg1	A	T	6: 78,404,386 (GRCm39)	I87F	possibly damaging	Het
Rrp12	C	A	19: 41,857,217 (GRCm39)	V1186L	probably benign	Het
Slc23a3	A	C	1: 75,108,392 (GRCm39)	F279V	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Suds3	A	G	5: 117,244,727 (GRCm39)	L115P	probably damaging	Het
Tekt2	G	A	4: 126,216,989 (GRCm39)	A260V	probably damaging	Het
Tgfb3	T	A	12: 86,104,621 (GRCm39)	Y391F	probably damaging	Het
Topbp1	T	C	9: 103,209,950 (GRCm39)	S866P	probably benign	Het
Tspan14	A	G	14: 40,635,372 (GRCm39)	Y175H	probably benign	Het
Vars2	T	C	17: 35,971,332 (GRCm39)	T568A	probably benign	Het
Vmn1r216	T	G	13: 23,283,339 (GRCm39)	D7E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zfp281	T	C	1: 136,553,250 (GRCm39)	V76A	probably benign	Het
Zfp36l2	T	C	17: 84,493,980 (GRCm39)	N219S	probably damaging	Het
Zfp626	T	C	7: 27,507,717 (GRCm39)	M42T	probably benign	Het
Zscan21	C	T	5: 138,123,359 (GRCm39)	P13S	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
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'- ACCTTGGTGCTCTGGAGATTC -3'
(R):5'- TGATTGTCAATGAAAGTCCAGCC -3'

Sequencing Primer
(F):5'- GCTCTGGAGATTCTCAATGATGAC -3'
(R):5'- TGAAAGTCCAGCCTCCCCAG -3'

Posted On

2018-02-27