Mutagenetix > Incidental Mutation

Incidental Mutation 'R6245:Slf1'

505546

Institutional Source

Beutler Lab

Gene Symbol

Slf1

Ensembl Gene

ENSMUSG00000021597

Gene Name

SMC5-SMC6 complex localization factor 1

Synonyms

2700017A04Rik, Brctx, Brctd1, C730024G01Rik, Ankrd32

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77043088-77135473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77084383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 534 (L534P)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151524]

AlphaFold

Q8R3P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000151524
AA Change: L534P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: L534P

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
BRCT	121	199	2.12e1	SMART
low complexity region	260	273	N/A	INTRINSIC
low complexity region	527	541	N/A	INTRINSIC
low complexity region	765	785	N/A	INTRINSIC
ANK	802	832	1.52e0	SMART
ANK	836	865	4.32e-5	SMART
ANK	870	900	2.07e-2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes donot show any major cell cycle defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,178,418	Y218H	probably benign	Het
Abca9	A	G	11: 110,135,423	I937T	probably damaging	Het
Adgrl3	T	A	5: 81,688,556	N720K	probably benign	Het
Akr1c21	T	G	13: 4,575,232	V54G	possibly damaging	Het
Alpi	G	T	1: 87,100,834	D111E	probably damaging	Het
Armc3	C	T	2: 19,248,705	T219M	probably damaging	Het
Bms1	T	A	6: 118,396,836	E780V	probably damaging	Het
Ccdc159	T	C	9: 21,935,568	S244P	probably damaging	Het
Cdon	T	C	9: 35,476,939	W737R	probably damaging	Het
Chdh	T	A	14: 30,035,305	V395D	probably damaging	Het
Col22a1	C	A	15: 71,973,816	D366Y	probably damaging	Het
Crnkl1	T	A	2: 145,928,131	N264I	probably benign	Het
Ctnnd2	T	C	15: 30,905,748	L847P	probably damaging	Het
Cyp4a31	A	C	4: 115,571,348	T382P	possibly damaging	Het
Dcaf8	A	T	1: 172,165,867	M1L	probably benign	Het
Ddx31	T	A	2: 28,844,982	F52I	probably benign	Het
Eps15	G	A	4: 109,382,866	S852N	possibly damaging	Het
Fchsd1	A	T	18: 37,962,775	L552Q	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Frem2	T	C	3: 53,655,824	M421V	probably benign	Het
Gm1110	T	G	9: 26,920,747	H36P	probably benign	Het
Gm11639	A	T	11: 104,785,008	Y1542F	probably benign	Het
Hadha	C	T	5: 30,120,044		probably null	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Intu	C	A	3: 40,675,326	T362K	probably damaging	Het
Jaml	C	T	9: 45,097,919	T248I	probably damaging	Het
Kcnj1	A	T	9: 32,396,867	S176C	probably damaging	Het
Kcnj9	A	G	1: 172,326,137	L140P	probably damaging	Het
Kif7	T	C	7: 79,702,143	K957R	probably damaging	Het
Klc4	T	A	17: 46,636,679	I366F	probably damaging	Het
Lamb2	A	G	9: 108,488,199		probably null	Het
Madd	T	C	2: 91,178,104	D151G	probably benign	Het
Man2a1	C	A	17: 64,710,826	A689E	probably damaging	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Msmp	T	C	4: 43,583,909	Y48C	probably damaging	Het
Muc6	T	C	7: 141,648,821	N567S	probably damaging	Het
Nrap	A	G	19: 56,354,221	Y748H	probably damaging	Het
Nrap	C	T	19: 56,379,875	A192T	possibly damaging	Het
Olfr1138	G	C	2: 87,737,896	Q143E	possibly damaging	Het
Olfr1370	T	A	13: 21,072,690	T204S	possibly damaging	Het
Olfr1384	T	A	11: 49,514,165	F176I	possibly damaging	Het
Pcdhb8	T	G	18: 37,357,169	D633E	possibly damaging	Het
Pcdhb9	G	A	18: 37,403,154	V734M	probably damaging	Het
Plscr1	T	C	9: 92,259,321	Y21H	unknown	Het
Ptk2b	G	T	14: 66,163,066	P767T	probably damaging	Het
Ptprz1	T	C	6: 23,051,990	Y1424H	probably damaging	Het
Sec31a	T	A	5: 100,386,184	Q118L	probably benign	Het
Selenop	A	G	15: 3,274,734	S21G	probably damaging	Het
Shank1	G	A	7: 44,352,253	S1132N	unknown	Het
Sparcl1	T	A	5: 104,085,147	H596L	probably damaging	Het
Spocd1	C	T	4: 129,957,108		probably null	Het
Tbc1d24	A	T	17: 24,185,993	I59N	probably damaging	Het
Tctex1d1	A	G	4: 102,988,667	N32S	probably benign	Het
Tjp3	G	A	10: 81,277,276	T580I	probably benign	Het
Tmem154	C	T	3: 84,684,296	T51M	possibly damaging	Het
Tmem8b	G	A	4: 43,690,246	V894I	probably benign	Het
Trbv20	A	T	6: 41,188,906	L88F	possibly damaging	Het
Tssk2	A	C	16: 17,898,948	I72L	possibly damaging	Het
Tub	T	A	7: 109,027,058	I267N	probably damaging	Het
Vmn2r104	A	T	17: 20,041,567	F434I	possibly damaging	Het
Vmn2r42	T	C	7: 8,192,734	N471S	probably damaging	Het
Vmn2r94	C	G	17: 18,258,123	G121R	probably damaging	Het
Wdr72	T	C	9: 74,148,223	S245P	probably damaging	Het
Zbtb42	A	G	12: 112,679,535	Y48C	probably damaging	Het
Zdbf2	T	C	1: 63,304,433	V657A	possibly damaging	Het
Zfp768	A	T	7: 127,344,091	C288*	probably null	Het
Zfp988	T	A	4: 147,332,013	C301*	probably null	Het

Other mutations in Slf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slf1	APN	13	77043947	missense	possibly damaging	0.95
IGL01105:Slf1	APN	13	77100912	unclassified	probably benign
IGL01108:Slf1	APN	13	77125475	splice site	probably benign
IGL01149:Slf1	APN	13	77112648	missense	probably damaging	0.99
IGL01642:Slf1	APN	13	77049915	missense	probably benign	0.00
IGL01757:Slf1	APN	13	77084440	missense	probably benign
IGL01887:Slf1	APN	13	77100982	missense	probably benign	0.02
IGL02323:Slf1	APN	13	77051294	missense	possibly damaging	0.87
IGL02861:Slf1	APN	13	77126359	splice site	probably benign
IGL02971:Slf1	APN	13	77047104	splice site	probably benign
IGL03088:Slf1	APN	13	77084435	missense	probably damaging	1.00
IGL03215:Slf1	APN	13	77049977	missense	probably benign	0.00
IGL02980:Slf1	UTSW	13	77044004	missense	possibly damaging	0.92
PIT1430001:Slf1	UTSW	13	77050050	splice site	probably benign
R0036:Slf1	UTSW	13	77100951	missense	probably benign	0.02
R0036:Slf1	UTSW	13	77100951	missense	probably benign	0.02
R0125:Slf1	UTSW	13	77043745	missense	probably benign	0.02
R0230:Slf1	UTSW	13	77112748	intron	probably benign
R0244:Slf1	UTSW	13	77126632	nonsense	probably null
R0395:Slf1	UTSW	13	77105969	splice site	probably benign
R0614:Slf1	UTSW	13	77049114	missense	probably benign	0.10
R0661:Slf1	UTSW	13	77083596	missense	probably benign	0.31
R0837:Slf1	UTSW	13	77100948	splice site	probably null
R0945:Slf1	UTSW	13	77103471	unclassified	probably benign
R1282:Slf1	UTSW	13	77043840	missense	probably damaging	0.97
R1365:Slf1	UTSW	13	77126371	missense	probably damaging	1.00
R1449:Slf1	UTSW	13	77083449	missense	probably damaging	1.00
R1646:Slf1	UTSW	13	77066648	nonsense	probably null
R2071:Slf1	UTSW	13	77104624	missense	probably benign	0.02
R2141:Slf1	UTSW	13	77049219	critical splice acceptor site	probably null
R2217:Slf1	UTSW	13	77046706	critical splice acceptor site	probably null
R2397:Slf1	UTSW	13	77103583	nonsense	probably null
R2520:Slf1	UTSW	13	77051265	missense	probably damaging	1.00
R3108:Slf1	UTSW	13	77126721	splice site	probably benign
R4178:Slf1	UTSW	13	77043569	missense	probably damaging	1.00
R4663:Slf1	UTSW	13	77126604	missense	probably damaging	1.00
R4730:Slf1	UTSW	13	77046632	missense	probably damaging	1.00
R4910:Slf1	UTSW	13	77043880	missense	probably benign	0.14
R4912:Slf1	UTSW	13	77051294	missense	probably damaging	1.00
R5122:Slf1	UTSW	13	77049987	missense	probably benign	0.01
R5269:Slf1	UTSW	13	77104581	missense	probably benign	0.33
R5336:Slf1	UTSW	13	77106010	makesense	probably null
R5346:Slf1	UTSW	13	77092371	missense	probably benign	0.00
R5445:Slf1	UTSW	13	77091204	missense	probably benign	0.10
R5568:Slf1	UTSW	13	77046704	missense	probably damaging	1.00
R5622:Slf1	UTSW	13	77049971	missense	probably benign	0.14
R5685:Slf1	UTSW	13	77083479	missense	possibly damaging	0.88
R5792:Slf1	UTSW	13	77066737	missense	probably benign	0.03
R5856:Slf1	UTSW	13	77106087	missense	possibly damaging	0.63
R6109:Slf1	UTSW	13	77126680	missense	probably damaging	0.99
R6338:Slf1	UTSW	13	77084462	critical splice acceptor site	probably null
R6438:Slf1	UTSW	13	77066606	missense	probably damaging	1.00
R6487:Slf1	UTSW	13	77066617	missense	probably damaging	1.00
R6597:Slf1	UTSW	13	77049129	missense	probably benign	0.01
R6600:Slf1	UTSW	13	77083536	missense	probably benign	0.00
R6661:Slf1	UTSW	13	77043845	missense	probably damaging	1.00
R7268:Slf1	UTSW	13	77066707	missense	probably damaging	1.00
R7308:Slf1	UTSW	13	77051168	missense	probably benign	0.19
R7355:Slf1	UTSW	13	77091303	missense	probably damaging	1.00
R7546:Slf1	UTSW	13	77049192	missense	probably benign
R7807:Slf1	UTSW	13	77046704	missense	probably damaging	1.00
R8175:Slf1	UTSW	13	77112671	missense	probably damaging	1.00
R8385:Slf1	UTSW	13	77105990	missense	probably benign
R8698:Slf1	UTSW	13	77049165	missense	possibly damaging	0.78
R8770:Slf1	UTSW	13	77046647	missense	probably damaging	1.00
R8786:Slf1	UTSW	13	77126687	missense	possibly damaging	0.93
R8796:Slf1	UTSW	13	77066665	missense	probably benign	0.00
R8932:Slf1	UTSW	13	77046574	missense	probably damaging	1.00
R9132:Slf1	UTSW	13	77100954	missense	probably benign	0.24
R9243:Slf1	UTSW	13	77125456	missense	possibly damaging	0.95
R9274:Slf1	UTSW	13	77043550	makesense	probably null
R9286:Slf1	UTSW	13	77043813	missense	probably damaging	0.99
R9416:Slf1	UTSW	13	77046537	missense
R9612:Slf1	UTSW	13	77049085	critical splice donor site	probably null
X0018:Slf1	UTSW	13	77051238	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACCACCTTAGAATCTTATTTTCT -3'
(R):5'- AACTTAGCTTTAAATTTGTCGAAGGT -3'

Sequencing Primer
(F):5'- TGAGCAAAACTTCACTGC -3'
(R):5'- GAAATGCAATATTGGGTTCAT -3'

Posted On

2018-02-28