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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52311172-52328762 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 52314411 bp (GRCm38)

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
2310050C09Rik	A	T	3: 92,868,819	C186S	probably benign	Het
Abcc2	G	A	19: 43,807,053	G416E	probably damaging	Het
Acsl5	G	T	19: 55,291,210	W460L	probably damaging	Het
Adam2	A	G	14: 66,035,185	F614S	probably benign	Het
Adamts5	G	A	16: 85,899,945	T108I	probably benign	Het
Agmat	C	T	4: 141,755,935	Q227*	probably null	Het
Alg11	A	G	8: 22,065,379	N219D	probably damaging	Het
Amhr2	A	G	15: 102,447,393	T258A	probably benign	Het
Ankrd53	A	G	6: 83,763,196	E82G	probably null	Het
Blzf1	T	A	1: 164,295,883	T292S	possibly damaging	Het
Capza1	T	C	3: 104,840,835	D71G	probably benign	Het
Cc2d1b	T	C	4: 108,631,676	F770L	probably benign	Het
Cckbr	A	T	7: 105,434,645	Q260L	probably benign	Het
Cep162	T	C	9: 87,203,783	T1163A	probably benign	Het
Chd9	T	C	8: 91,034,079	S2151P	unknown	Het
Clk1	T	A	1: 58,414,613	T301S	probably benign	Het
Cmya5	T	A	13: 93,092,797	S1928C	possibly damaging	Het
Col24a1	C	T	3: 145,486,304	Q1273*	probably null	Het
Col4a4	T	C	1: 82,523,943	D363G	unknown	Het
Copb1	A	T	7: 114,219,602	M827K	probably damaging	Het
Crocc	C	T	4: 141,043,556	A351T	probably benign	Het
Crybg1	T	C	10: 44,003,432	T587A	probably damaging	Het
Csrnp3	A	G	2: 65,949,000	R19G	probably damaging	Het
Cyb5rl	T	C	4: 107,080,946	I165T	probably damaging	Het
Dnah1	A	T	14: 31,287,863	I1916N	probably damaging	Het
Dvl1	T	C	4: 155,856,168	M415T	possibly damaging	Het
Dync2h1	A	G	9: 7,001,454	S3845P	possibly damaging	Het
Eif3b	A	G	5: 140,419,428	Q23R	probably benign	Het
Esam	G	T	9: 37,537,724	R376L	probably damaging	Het
Fat3	G	C	9: 15,915,040	H391D		Het
Fat3	A	C	9: 15,915,296	S305R		Het
Fgd3	T	C	13: 49,264,658	D644G	probably benign	Het
Fgf7	T	C	2: 126,035,752	L13P	probably damaging	Het
Gas2l1	A	G	11: 5,064,338	Y41H	probably damaging	Het
Glg1	A	T	8: 111,168,743	I812N	probably damaging	Het
Glp1r	C	T	17: 30,924,625	H212Y	probably benign	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Gpr158	G	A	2: 21,576,939	V410I	possibly damaging	Het
Ighv1-53	A	T	12: 115,158,821	C5*	probably null	Het
Itgb2l	A	C	16: 96,426,796	Y502*	probably null	Het
Jakmip1	G	A	5: 37,127,473	V635I	probably benign	Het
Krt23	C	T	11: 99,483,856	M270I	probably benign	Het
Larp1b	C	T	3: 40,985,444	A344V		Het
Lin28b	T	C	10: 45,419,186	M134V	probably benign	Het
Lrrc19	T	A	4: 94,638,390	Y310F	probably benign	Het
Lyst	T	A	13: 13,680,237	D2397E	probably benign	Het
Map6	A	G	7: 99,336,533	N751S	possibly damaging	Het
Mgrn1	G	A	16: 4,932,220	D494N	probably benign	Het
Myh6	A	G	14: 54,947,174	F1567L	probably benign	Het
Myo9b	T	C	8: 71,325,905	V461A	probably benign	Het
Ncan	A	T	8: 70,115,211	S84T	probably damaging	Het
Nlrp9a	G	A	7: 26,571,269	C908Y	probably damaging	Het
Olfr1264	A	T	2: 90,021,527	Y180N	probably damaging	Het
Olfr1289	A	G	2: 111,483,354		probably null	Het
Olfr659	T	A	7: 104,670,718	N5K	probably damaging	Het
Olfr949-ps1	A	T	9: 39,364,834	M92L	probably benign	Het
Parp4	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	14: 56,647,846		probably benign	Het
Pld1	C	A	3: 28,087,286	T666K	probably damaging	Het
Pnpla6	A	G	8: 3,538,068	Y1107C	probably damaging	Het
Pramel7	A	C	2: 87,492,362	N19K	probably benign	Het
Prh1	C	G	6: 132,571,758	P76R	unknown	Het
Prkd2	T	C	7: 16,845,940	V121A	possibly damaging	Het
Ptprq	G	A	10: 107,635,506	Q1345*	probably null	Het
Ryr3	T	A	2: 112,902,603	T653S	probably benign	Het
Slc23a2	A	C	2: 132,089,106	F158V	probably benign	Het
Smg1	C	A	7: 118,166,099	R1954L	unknown	Het
Snx31	G	A	15: 36,523,450	T362I	probably damaging	Het
Taf3	G	T	2: 9,952,090	T422K	probably damaging	Het
Tcfl5	T	C	2: 180,642,165	D142G	probably benign	Het
Tmx1	A	G	12: 70,460,551	T188A	probably damaging	Het
Tnfrsf11a	A	G	1: 105,808,141		probably null	Het
Trio	A	T	15: 27,871,289	C640S	possibly damaging	Het
Ulk4	T	G	9: 121,255,124	N427T	probably damaging	Het
Vmn1r202	T	C	13: 22,501,702	M182V	probably benign	Het
Vmn1r214	C	T	13: 23,034,669	A111V	probably benign	Het

Other mutations in Sall2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Sall2	APN	14	52314571	missense	probably damaging	1.00
IGL02152:Sall2	APN	14	52315514	missense	probably damaging	1.00
IGL02318:Sall2	APN	14	52315565	missense	probably damaging	1.00
IGL02933:Sall2	APN	14	52313027	missense	probably benign	0.00
IGL03165:Sall2	APN	14	52314168	missense	probably damaging	1.00
R1079:Sall2	UTSW	14	52313203	missense	probably benign	0.13
R1295:Sall2	UTSW	14	52313725	missense	probably damaging	1.00
R1674:Sall2	UTSW	14	52313836	missense	probably damaging	1.00
R1840:Sall2	UTSW	14	52313725	missense	probably damaging	1.00
R1989:Sall2	UTSW	14	52314439	missense	probably damaging	1.00
R2339:Sall2	UTSW	14	52313356	missense	probably damaging	1.00
R3407:Sall2	UTSW	14	52328104	missense	probably benign	0.03
R3870:Sall2	UTSW	14	52313994	missense	probably damaging	1.00
R3895:Sall2	UTSW	14	52314047	missense	probably damaging	0.99
R4059:Sall2	UTSW	14	52314571	missense	probably damaging	1.00
R4272:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4273:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4275:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4289:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4503:Sall2	UTSW	14	52313459	missense	probably benign
R4592:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4611:Sall2	UTSW	14	52313753	missense	probably damaging	1.00
R4615:Sall2	UTSW	14	52312750	missense	probably benign	0.20
R4640:Sall2	UTSW	14	52315159	missense	probably damaging	0.99
R4693:Sall2	UTSW	14	52314478	missense	probably damaging	1.00
R4921:Sall2	UTSW	14	52315393	missense	possibly damaging	0.93
R5007:Sall2	UTSW	14	52314493	missense	probably damaging	1.00
R5015:Sall2	UTSW	14	52315655	missense	possibly damaging	0.92
R5079:Sall2	UTSW	14	52314754	missense	probably damaging	1.00
R5419:Sall2	UTSW	14	52313129	missense	probably damaging	1.00
R5849:Sall2	UTSW	14	52314247	missense	probably benign	0.13
R6229:Sall2	UTSW	14	52313191	missense	probably benign
R6397:Sall2	UTSW	14	52315153	missense	probably damaging	1.00
R6422:Sall2	UTSW	14	52312724	makesense	probably null
R6456:Sall2	UTSW	14	52313593	missense	probably damaging	1.00
R6456:Sall2	UTSW	14	52313594	nonsense	probably null
R6786:Sall2	UTSW	14	52314621	missense	probably damaging	1.00
R7496:Sall2	UTSW	14	52315561	missense	possibly damaging	0.63
R7792:Sall2	UTSW	14	52316064	missense	probably damaging	1.00
R8324:Sall2	UTSW	14	52312886	missense	probably benign	0.30
R9017:Sall2	UTSW	14	52313262	missense	possibly damaging	0.51
R9149:Sall2	UTSW	14	52313216	missense	possibly damaging	0.95
R9362:Sall2	UTSW	14	52313144	nonsense	probably null
R9571:Sall2	UTSW	14	52314373	missense	probably damaging	1.00
R9574:Sall2	UTSW	14	52314160	missense	probably damaging	1.00
R9641:Sall2	UTSW	14	52313425	missense	probably damaging	1.00
R9648:Sall2	UTSW	14	52313767	missense	probably damaging	1.00
R9694:Sall2	UTSW	14	52314667	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