Mutagenetix > Incidental Mutation

Incidental Mutation 'R4358:Sall4'

324644

Institutional Source

Beutler Lab

Gene Symbol

Sall4

Ensembl Gene

ENSMUSG00000027547

Gene Name

spalt like transcription factor 4

Synonyms

5730441M18Rik, Tex20, C330011P20Rik

MMRRC Submission

041110-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168748332-168767943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168755480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 480 (E480G)

Ref Sequence

ENSEMBL: ENSMUSP00000029061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029061] [ENSMUST00000075044] [ENSMUST00000103074] [ENSMUST00000137536] [ENSMUST00000150588]

AlphaFold

Q8BX22

Predicted Effect

probably benign
Transcript: ENSMUST00000029061
AA Change: E480G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029061
Gene: ENSMUSG00000027547
AA Change: E480G

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
low complexity region	25	42	N/A	INTRINSIC
ZnF_C2H2	68	88	1.31e2	SMART
low complexity region	193	203	N/A	INTRINSIC
low complexity region	210	230	N/A	INTRINSIC
low complexity region	254	278	N/A	INTRINSIC
low complexity region	295	313	N/A	INTRINSIC
ZnF_C2H2	387	409	1.04e-3	SMART
ZnF_C2H2	415	437	2.15e-5	SMART
ZnF_C2H2	573	595	5.34e0	SMART
ZnF_C2H2	601	623	1.22e-4	SMART
ZnF_C2H2	633	655	1.84e-4	SMART
low complexity region	855	867	N/A	INTRINSIC
ZnF_C2H2	880	902	2.53e-2	SMART
ZnF_C2H2	908	930	1.13e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075044

SMART Domains

Protein: ENSMUSP00000074556
Gene: ENSMUSG00000027547

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
low complexity region	30	38	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
ZnF_C2H2	91	113	2.53e-2	SMART
ZnF_C2H2	119	141	1.13e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103074

SMART Domains

Protein: ENSMUSP00000099363
Gene: ENSMUSG00000027547

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
low complexity region	25	42	N/A	INTRINSIC
ZnF_C2H2	68	88	1.31e2	SMART
low complexity region	193	203	N/A	INTRINSIC
low complexity region	210	230	N/A	INTRINSIC
low complexity region	254	278	N/A	INTRINSIC
low complexity region	295	313	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
ZnF_C2H2	436	458	2.53e-2	SMART
ZnF_C2H2	464	486	1.13e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130640

Predicted Effect

probably benign
Transcript: ENSMUST00000137536

SMART Domains

Protein: ENSMUSP00000115646
Gene: ENSMUSG00000027547

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	37	61	6e-9	BLAST
low complexity region	162	172	N/A	INTRINSIC
low complexity region	179	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150588

SMART Domains

Protein: ENSMUSP00000119628
Gene: ENSMUSG00000027547

Domain	Start	End	E-Value	Type
ZnF_C2H2	64	86	1.22e-4	SMART
ZnF_C2H2	96	118	1.84e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: This gene belongs to the spalt family of zinc finger transcription factors. In mouse, functions for this gene have been described in many embryonic developmental processes, including brain, heart, and limb development. In addition, this gene is an important pluripotency factor that is required for stem cell maintenance. Homozygous mutant mice display embryonic lethality, while conditional knock-out in embryonic germ cells results in failure to establish a robust stem cell population. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,729,373	V7M	probably damaging	Het
Birc6	T	A	17: 74,619,668		probably null	Het
Chil3	G	A	3: 106,160,499	Q117*	probably null	Het
Daglb	T	C	5: 143,473,134		probably benign	Het
Dnah11	G	A	12: 118,125,843	R1163*	probably null	Het
Ftsj3	G	A	11: 106,253,676	A134V	probably benign	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Gfod2	T	C	8: 105,717,545	N122S	possibly damaging	Het
Golga4	A	G	9: 118,551,878	E507G	probably benign	Het
Ids	C	A	X: 70,346,344	G506C	probably damaging	Het
Ifna15	G	T	4: 88,557,842	T135N	probably benign	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827		probably null	Het
L3hypdh	A	T	12: 72,077,424	D247E	probably damaging	Het
Lama2	A	T	10: 26,984,493	N2999K	probably damaging	Het
Lpcat2	C	A	8: 92,873,106	P234Q	probably benign	Het
Lrp10	C	T	14: 54,468,366	R338C	probably damaging	Het
Mcm9	A	C	10: 53,537,653	C444G	probably benign	Het
Mecom	G	A	3: 29,979,785	Q246*	probably null	Het
Mib1	A	G	18: 10,751,844	N242S	probably benign	Het
Olfr13	T	A	6: 43,174,226	M80K	probably damaging	Het
Olfr943	G	A	9: 39,184,568	C127Y	probably damaging	Het
P3h4	A	G	11: 100,413,626	F263S	probably damaging	Het
Pcsk1	T	C	13: 75,112,719	S354P	possibly damaging	Het
Pms2	T	A	5: 143,925,926	F617Y	probably damaging	Het
Prps2	T	A	X: 167,363,549	K176*	probably null	Het
Psmd13	G	T	7: 140,889,505		probably benign	Het
Pygl	G	A	12: 70,195,690	S573L	probably damaging	Het
Rapgef3	A	G	15: 97,748,648	V794A	probably benign	Het
Rasgrf2	C	A	13: 91,890,677	D1017Y	probably damaging	Het
Rb1cc1	A	G	1: 6,245,637	D555G	probably damaging	Het
Rptor	G	T	11: 119,671,345	E111D	probably damaging	Het
Scn4a	G	A	11: 106,348,857		probably null	Het
Scn8a	G	A	15: 100,940,133	A94T	probably benign	Het
Slc26a6	T	A	9: 108,861,783	C636S	probably benign	Het
Slc38a11	T	C	2: 65,358,116	K103R	probably benign	Het
Sned1	T	C	1: 93,274,659	L675P	probably benign	Het
Spsb1	T	C	4: 149,906,775	H112R	probably damaging	Het
Tmem132d	G	A	5: 127,984,341	T399M	possibly damaging	Het
Zfp939	A	G	7: 39,473,720		noncoding transcript	Het
Zfp951	T	C	5: 104,814,675	K342E	probably damaging	Het

Other mutations in Sall4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Sall4	APN	2	168755312	missense	probably benign	0.02
IGL00592:Sall4	APN	2	168755963	missense	probably damaging	1.00
IGL00674:Sall4	APN	2	168755780	missense	probably damaging	0.99
IGL01308:Sall4	APN	2	168750244	missense	probably damaging	0.99
IGL01538:Sall4	APN	2	168755856	missense	probably damaging	1.00
IGL01552:Sall4	APN	2	168756123	missense	probably damaging	1.00
IGL02614:Sall4	APN	2	168755885	missense	probably null	0.79
R0514:Sall4	UTSW	2	168755705	missense	probably damaging	1.00
R0531:Sall4	UTSW	2	168756336	missense	probably benign	0.10
R0747:Sall4	UTSW	2	168754966	missense	probably damaging	1.00
R1371:Sall4	UTSW	2	168756474	missense	probably benign	0.10
R1736:Sall4	UTSW	2	168752635	missense	probably benign	0.10
R2067:Sall4	UTSW	2	168756545	missense	probably benign	0.00
R3766:Sall4	UTSW	2	168756044	missense	possibly damaging	0.93
R3783:Sall4	UTSW	2	168756123	missense	probably damaging	1.00
R3784:Sall4	UTSW	2	168756123	missense	probably damaging	1.00
R3785:Sall4	UTSW	2	168756123	missense	probably damaging	1.00
R3787:Sall4	UTSW	2	168756123	missense	probably damaging	1.00
R3877:Sall4	UTSW	2	168756242	missense	probably damaging	1.00
R4356:Sall4	UTSW	2	168755480	missense	probably benign	0.37
R4760:Sall4	UTSW	2	168750427	missense	probably damaging	0.98
R4869:Sall4	UTSW	2	168755717	missense	probably damaging	1.00
R5979:Sall4	UTSW	2	168750343	missense	probably benign	0.28
R6089:Sall4	UTSW	2	168755486	missense	possibly damaging	0.92
R6502:Sall4	UTSW	2	168755708	missense	probably damaging	1.00
R6990:Sall4	UTSW	2	168755070	missense	probably damaging	1.00
R7999:Sall4	UTSW	2	168752641	missense	probably damaging	0.99
R8436:Sall4	UTSW	2	168755910	missense	probably damaging	1.00
R9069:Sall4	UTSW	2	168754853	missense	probably benign	0.00
R9375:Sall4	UTSW	2	168755861	missense	probably damaging	0.99
R9630:Sall4	UTSW	2	168754488	missense	probably benign
R9720:Sall4	UTSW	2	168750240	missense	probably damaging	1.00
Z1177:Sall4	UTSW	2	168752575	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATTTCAGGGTCTCGGAC -3'
(R):5'- ATCTGTGGTCACCGCTTCAC -3'

Sequencing Primer
(F):5'- CAGCCTTTGGGGGATTATGTATCATC -3'
(R):5'- GCTTCACCACCAAGGGC -3'

Posted On

2015-06-24