Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Sall4'

157302

Institutional Source

Beutler Lab

Gene Symbol

Sall4

Ensembl Gene

ENSMUSG00000027547

Gene Name

spalt like transcription factor 4

Synonyms

5730441M18Rik, Tex20, C330011P20Rik

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168748332-168767943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168756474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 149 (Y149H)

Ref Sequence

ENSEMBL: ENSMUSP00000099363 (fasta)

Gene Model

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

AlphaFold

Q8BX22

Predicted Effect

probably benign
Transcript: ENSMUST00000029061
AA Change: Y149H

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029061
Gene: ENSMUSG00000027547
AA Change: Y149H

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
AA Change: Y149H

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099363
Gene: ENSMUSG00000027547
AA Change: Y149H

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
AA Change: Y118H

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115646
Gene: ENSMUSG00000027547
AA Change: Y118H

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

0.0734

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,953,553	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,899,616	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,392,459	T208I	probably benign	Het
Aldh16a1	G	T	7: 45,147,250	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Asgr1	T	G	11: 70,056,097	C56W	probably benign	Het
Atp11b	T	C	3: 35,806,769	I335T	probably damaging	Het
BC061237	A	G	14: 44,504,305		probably benign	Het
Bdh1	G	T	16: 31,456,902	K280N	probably benign	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,280,603	E285G	probably benign	Het
Ces1f	C	T	8: 93,279,649	G18R	probably damaging	Het
Cfap43	T	A	19: 47,835,606	I109L	possibly damaging	Het
Cma2	T	C	14: 55,972,826	L56S	probably damaging	Het
Edc4	A	G	8: 105,890,750		probably benign	Het
F3	T	C	3: 121,732,510	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,445,003	S972C	probably damaging	Het
H2afy2	A	T	10: 61,749,333	D177E	possibly damaging	Het
Heatr1	T	G	13: 12,417,632	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,196,894		probably benign	Het
Ice1	T	C	13: 70,596,221	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,442,713	N194D	probably damaging	Het
Ip6k1	G	A	9: 108,045,823	V385M	probably damaging	Het
Lig1	G	A	7: 13,288,685	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,647,153	V41I	probably damaging	Het
Mst1r	T	A	9: 107,917,225	V1201E	probably damaging	Het
Myof	T	C	19: 37,903,668		probably benign	Het
Nbas	G	T	12: 13,482,378		probably benign	Het
Ndst1	A	G	18: 60,707,647	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983	G343R	probably damaging	Het
Olfr13	A	T	6: 43,174,300	T105S	probably benign	Het
Olfr1385	T	A	11: 49,494,823	C97S	probably damaging	Het
Olfr462	A	T	11: 87,889,296	I200N	probably damaging	Het
Pde4d	T	C	13: 109,117,061	S141P	probably benign	Het
Pigm	A	T	1: 172,376,814	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,662,767	I88F	probably benign	Het
Prss16	T	A	13: 22,008,686		probably benign	Het
Psmc4	G	A	7: 28,042,797		probably benign	Het
Ptger3	T	A	3: 157,567,728	C237*	probably null	Het
Recql	G	A	6: 142,372,875	T214M	probably damaging	Het
Rfx7	T	A	9: 72,619,575	V1349D	probably damaging	Het
Ros1	A	G	10: 52,087,945	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,946,809	S83T	probably benign	Het
Smad1	A	G	8: 79,349,578		probably benign	Het
Snrnp70	T	C	7: 45,380,705		probably benign	Het
Spef2	C	A	15: 9,725,108		probably benign	Het
Sptlc1	T	C	13: 53,351,624	T253A	probably benign	Het
Zbbx	T	C	3: 75,052,477	Y595C	possibly damaging	Het
Zfp382	T	C	7: 30,133,689	V255A	probably benign	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
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
R4358: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'- ACGCGAATCTGTTCCGTAAGCTG -3'
(R):5'- AAGTTGCACTAAAACCCCTCCTGTC -3'

Sequencing Primer
(F):5'- ACAGGATCTGCTCCAGGAC -3'
(R):5'- TGTCCTCATCATGAATGACAGC -3'

Posted On

2014-02-18