Mutagenetix > Incidental Mutation

Incidental Mutation 'R7293:Sall2'

566582

Institutional Source

Beutler Lab

Gene Symbol

Sall2

Ensembl Gene

ENSMUSG00000049532

Gene Name

spalt like transcription factor 2

Synonyms

Msal-2

MMRRC Submission

045398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52548634-52566127 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 52551868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 442 (Y442*)

Ref Sequence

ENSEMBL: ENSMUSP00000056401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058326] [ENSMUST00000135523]

AlphaFold

Q9QX96

Predicted Effect

probably null
Transcript: ENSMUST00000058326
AA Change: Y442*

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: Y442*

Domain	Start	End	E-Value	Type
low complexity region	71	81	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
ZnF_C2H2	372	394	2.57e-3	SMART
ZnF_C2H2	400	422	1.28e-3	SMART
low complexity region	476	501	N/A	INTRINSIC
low complexity region	602	627	N/A	INTRINSIC
ZnF_C2H2	629	651	1.2e1	SMART
ZnF_C2H2	657	679	1.69e-3	SMART
ZnF_C2H2	689	711	6.88e-4	SMART
low complexity region	719	730	N/A	INTRINSIC
low complexity region	747	779	N/A	INTRINSIC
low complexity region	799	819	N/A	INTRINSIC
low complexity region	829	848	N/A	INTRINSIC
ZnF_C2H2	908	930	2.09e-3	SMART
ZnF_C2H2	937	960	1.01e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000135523
AA Change: Y440*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in no apparent abnormal phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,795,492 (GRCm39)	G416E	probably damaging	Het
Acsl5	G	T	19: 55,279,642 (GRCm39)	W460L	probably damaging	Het
Adam2	A	G	14: 66,272,634 (GRCm39)	F614S	probably benign	Het
Adamts5	G	A	16: 85,696,833 (GRCm39)	T108I	probably benign	Het
Agmat	C	T	4: 141,483,246 (GRCm39)	Q227*	probably null	Het
Alg11	A	G	8: 22,555,395 (GRCm39)	N219D	probably damaging	Het
Amhr2	A	G	15: 102,355,828 (GRCm39)	T258A	probably benign	Het
Ankrd53	A	G	6: 83,740,178 (GRCm39)	E82G	probably null	Het
Blzf1	T	A	1: 164,123,452 (GRCm39)	T292S	possibly damaging	Het
Capza1	T	C	3: 104,748,151 (GRCm39)	D71G	probably benign	Het
Cc2d1b	T	C	4: 108,488,873 (GRCm39)	F770L	probably benign	Het
Cckbr	A	T	7: 105,083,852 (GRCm39)	Q260L	probably benign	Het
Cep162	T	C	9: 87,085,836 (GRCm39)	T1163A	probably benign	Het
Chd9	T	C	8: 91,760,707 (GRCm39)	S2151P	unknown	Het
Clk1	T	A	1: 58,453,772 (GRCm39)	T301S	probably benign	Het
Cmya5	T	A	13: 93,229,305 (GRCm39)	S1928C	possibly damaging	Het
Col24a1	C	T	3: 145,192,059 (GRCm39)	Q1273*	probably null	Het
Col4a4	T	C	1: 82,501,664 (GRCm39)	D363G	unknown	Het
Copb1	A	T	7: 113,818,837 (GRCm39)	M827K	probably damaging	Het
Crocc	C	T	4: 140,770,867 (GRCm39)	A351T	probably benign	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Csrnp3	A	G	2: 65,779,344 (GRCm39)	R19G	probably damaging	Het
Cyb5rl	T	C	4: 106,938,143 (GRCm39)	I165T	probably damaging	Het
Dnah1	A	T	14: 31,009,820 (GRCm39)	I1916N	probably damaging	Het
Dvl1	T	C	4: 155,940,625 (GRCm39)	M415T	possibly damaging	Het
Dync2h1	A	G	9: 7,001,454 (GRCm39)	S3845P	possibly damaging	Het
Eif3b	A	G	5: 140,405,183 (GRCm39)	Q23R	probably benign	Het
Esam	G	T	9: 37,449,020 (GRCm39)	R376L	probably damaging	Het
Fat3	G	C	9: 15,826,336 (GRCm39)	H391D		Het
Fat3	A	C	9: 15,826,592 (GRCm39)	S305R		Het
Fgd3	T	C	13: 49,418,134 (GRCm39)	D644G	probably benign	Het
Fgf7	T	C	2: 125,877,672 (GRCm39)	L13P	probably damaging	Het
Gas2l1	A	G	11: 5,014,338 (GRCm39)	Y41H	probably damaging	Het
Glg1	A	T	8: 111,895,375 (GRCm39)	I812N	probably damaging	Het
Glp1r	C	T	17: 31,143,599 (GRCm39)	H212Y	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gpr158	G	A	2: 21,581,750 (GRCm39)	V410I	possibly damaging	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Itgb2l	A	C	16: 96,227,996 (GRCm39)	Y502*	probably null	Het
Jakmip1	G	A	5: 37,284,817 (GRCm39)	V635I	probably benign	Het
Kplce	A	T	3: 92,776,126 (GRCm39)	C186S	probably benign	Het
Krt23	C	T	11: 99,374,682 (GRCm39)	M270I	probably benign	Het
Larp1b	C	T	3: 40,939,879 (GRCm39)	A344V		Het
Lin28b	T	C	10: 45,295,282 (GRCm39)	M134V	probably benign	Het
Lrrc19	T	A	4: 94,526,627 (GRCm39)	Y310F	probably benign	Het
Lyst	T	A	13: 13,854,822 (GRCm39)	D2397E	probably benign	Het
Map6	A	G	7: 98,985,740 (GRCm39)	N751S	possibly damaging	Het
Mgrn1	G	A	16: 4,750,084 (GRCm39)	D494N	probably benign	Het
Myh6	A	G	14: 55,184,631 (GRCm39)	F1567L	probably benign	Het
Myo9b	T	C	8: 71,778,549 (GRCm39)	V461A	probably benign	Het
Ncan	A	T	8: 70,567,861 (GRCm39)	S84T	probably damaging	Het
Nlrp9a	G	A	7: 26,270,694 (GRCm39)	C908Y	probably damaging	Het
Or4c3	A	T	2: 89,851,871 (GRCm39)	Y180N	probably damaging	Het
Or4f4b	A	G	2: 111,313,699 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,319,925 (GRCm39)	N5K	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,130 (GRCm39)	M92L	probably benign	Het
Parp4	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	14: 56,885,303 (GRCm39)		probably benign	Het
Pld1	C	A	3: 28,141,435 (GRCm39)	T666K	probably damaging	Het
Pnpla6	A	G	8: 3,588,068 (GRCm39)	Y1107C	probably damaging	Het
Pramel7	A	C	2: 87,322,706 (GRCm39)	N19K	probably benign	Het
Prh1	C	G	6: 132,548,721 (GRCm39)	P76R	unknown	Het
Prkd2	T	C	7: 16,579,865 (GRCm39)	V121A	possibly damaging	Het
Ptprq	G	A	10: 107,471,367 (GRCm39)	Q1345*	probably null	Het
Ryr3	T	A	2: 112,732,948 (GRCm39)	T653S	probably benign	Het
Slc23a2	A	C	2: 131,931,026 (GRCm39)	F158V	probably benign	Het
Smg1	C	A	7: 117,765,322 (GRCm39)	R1954L	unknown	Het
Snx31	G	A	15: 36,523,596 (GRCm39)	T362I	probably damaging	Het
Taf3	G	T	2: 9,956,901 (GRCm39)	T422K	probably damaging	Het
Tcfl5	T	C	2: 180,283,958 (GRCm39)	D142G	probably benign	Het
Tmx1	A	G	12: 70,507,325 (GRCm39)	T188A	probably damaging	Het
Tnfrsf11a	A	G	1: 105,735,866 (GRCm39)		probably null	Het
Trio	A	T	15: 27,871,375 (GRCm39)	C640S	possibly damaging	Het
Ulk4	T	G	9: 121,084,190 (GRCm39)	N427T	probably damaging	Het
Vmn1r202	T	C	13: 22,685,872 (GRCm39)	M182V	probably benign	Het
Vmn1r214	C	T	13: 23,218,839 (GRCm39)	A111V	probably benign	Het

Other mutations in Sall2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Sall2	APN	14	52,552,028 (GRCm39)	missense	probably damaging	1.00
IGL02152:Sall2	APN	14	52,552,971 (GRCm39)	missense	probably damaging	1.00
IGL02318:Sall2	APN	14	52,553,022 (GRCm39)	missense	probably damaging	1.00
IGL02933:Sall2	APN	14	52,550,484 (GRCm39)	missense	probably benign	0.00
IGL03165:Sall2	APN	14	52,551,625 (GRCm39)	missense	probably damaging	1.00
R1079:Sall2	UTSW	14	52,550,660 (GRCm39)	missense	probably benign	0.13
R1295:Sall2	UTSW	14	52,551,182 (GRCm39)	missense	probably damaging	1.00
R1674:Sall2	UTSW	14	52,551,293 (GRCm39)	missense	probably damaging	1.00
R1840:Sall2	UTSW	14	52,551,182 (GRCm39)	missense	probably damaging	1.00
R1989:Sall2	UTSW	14	52,551,896 (GRCm39)	missense	probably damaging	1.00
R2339:Sall2	UTSW	14	52,550,813 (GRCm39)	missense	probably damaging	1.00
R3407:Sall2	UTSW	14	52,565,561 (GRCm39)	missense	probably benign	0.03
R3870:Sall2	UTSW	14	52,551,451 (GRCm39)	missense	probably damaging	1.00
R3895:Sall2	UTSW	14	52,551,504 (GRCm39)	missense	probably damaging	0.99
R4059:Sall2	UTSW	14	52,552,028 (GRCm39)	missense	probably damaging	1.00
R4272:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4273:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4275:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4289:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4503:Sall2	UTSW	14	52,550,916 (GRCm39)	missense	probably benign
R4592:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4611:Sall2	UTSW	14	52,551,210 (GRCm39)	missense	probably damaging	1.00
R4615:Sall2	UTSW	14	52,550,207 (GRCm39)	missense	probably benign	0.20
R4640:Sall2	UTSW	14	52,552,616 (GRCm39)	missense	probably damaging	0.99
R4693:Sall2	UTSW	14	52,551,935 (GRCm39)	missense	probably damaging	1.00
R4921:Sall2	UTSW	14	52,552,850 (GRCm39)	missense	possibly damaging	0.93
R5007:Sall2	UTSW	14	52,551,950 (GRCm39)	missense	probably damaging	1.00
R5015:Sall2	UTSW	14	52,553,112 (GRCm39)	missense	possibly damaging	0.92
R5079:Sall2	UTSW	14	52,552,211 (GRCm39)	missense	probably damaging	1.00
R5419:Sall2	UTSW	14	52,550,586 (GRCm39)	missense	probably damaging	1.00
R5849:Sall2	UTSW	14	52,551,704 (GRCm39)	missense	probably benign	0.13
R6229:Sall2	UTSW	14	52,550,648 (GRCm39)	missense	probably benign
R6397:Sall2	UTSW	14	52,552,610 (GRCm39)	missense	probably damaging	1.00
R6422:Sall2	UTSW	14	52,550,181 (GRCm39)	makesense	probably null
R6456:Sall2	UTSW	14	52,551,051 (GRCm39)	nonsense	probably null
R6456:Sall2	UTSW	14	52,551,050 (GRCm39)	missense	probably damaging	1.00
R6786:Sall2	UTSW	14	52,552,078 (GRCm39)	missense	probably damaging	1.00
R7496:Sall2	UTSW	14	52,553,018 (GRCm39)	missense	possibly damaging	0.63
R7792:Sall2	UTSW	14	52,553,521 (GRCm39)	missense	probably damaging	1.00
R8324:Sall2	UTSW	14	52,550,343 (GRCm39)	missense	probably benign	0.30
R9017:Sall2	UTSW	14	52,550,719 (GRCm39)	missense	possibly damaging	0.51
R9149:Sall2	UTSW	14	52,550,673 (GRCm39)	missense	possibly damaging	0.95
R9362:Sall2	UTSW	14	52,550,601 (GRCm39)	nonsense	probably null
R9571:Sall2	UTSW	14	52,551,830 (GRCm39)	missense	probably damaging	1.00
R9574:Sall2	UTSW	14	52,551,617 (GRCm39)	missense	probably damaging	1.00
R9641:Sall2	UTSW	14	52,550,882 (GRCm39)	missense	probably damaging	1.00
R9648:Sall2	UTSW	14	52,551,224 (GRCm39)	missense	probably damaging	1.00
R9694:Sall2	UTSW	14	52,552,124 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TTGTTGAAAGTAGGGAGCCCAG -3'
(R):5'- ACAAATGCCGCTTTTGTGC -3'

Sequencing Primer
(F):5'- AGTAGGGAGCCCAGGAGCC -3'
(R):5'- TATTCGGCAGTGACAGCG -3'

Posted On

2019-06-26