Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01149:Slf1'

52621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slf1

Ensembl Gene

ENSMUSG00000021597

Gene Name

SMC5-SMC6 complex localization factor 1

Synonyms

Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01149

Quality Score

Status

Chromosome

Chromosomal Location

77191207-77283592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77260767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 173 (I173N)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151524] [ENSMUST00000159300] [ENSMUST00000159462] [ENSMUST00000162921] [ENSMUST00000162944]

AlphaFold

Q8R3P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000151524
AA Change: I173N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: I173N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159300
AA Change: I173N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: I173N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159462
AA Change: I179N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
AA Change: I179N

Domain	Start	End	E-Value	Type
BRCT	8	86	1.37e-2	SMART
BRCT	127	205	2.12e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162320

Predicted Effect

probably benign
Transcript: ENSMUST00000162921

SMART Domains

Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
Blast:BRCT	121	173	1e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162944

SMART Domains

Protein: ENSMUSP00000123982
Gene: ENSMUSG00000021597

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
Blast:BRCT	121	173	1e-8	BLAST

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4632415L05Rik	A	G	3: 19,949,276 (GRCm39)		noncoding transcript	Het
Aadacl4fm4	T	C	4: 144,400,349 (GRCm39)	D143G	probably benign	Het
Adcy1	A	C	11: 7,087,385 (GRCm39)	N420H	probably damaging	Het
Avp	T	C	2: 130,422,593 (GRCm39)		probably benign	Het
B3galnt2	A	T	13: 14,155,270 (GRCm39)	I216F	probably benign	Het
Cdc42bpa	T	C	1: 179,902,137 (GRCm39)	S465P	probably damaging	Het
Cdc42bpg	T	A	19: 6,362,235 (GRCm39)		probably benign	Het
Cdcp2	T	C	4: 106,964,308 (GRCm39)	F386S	probably benign	Het
Cdh4	A	G	2: 179,515,937 (GRCm39)	T372A	probably damaging	Het
Clspn	T	G	4: 126,466,971 (GRCm39)	M612R	probably damaging	Het
Dll4	T	C	2: 119,161,590 (GRCm39)	C391R	probably damaging	Het
Dll4	T	C	2: 119,163,226 (GRCm39)	Y616H	probably damaging	Het
Exoc1	A	G	5: 76,690,091 (GRCm39)		probably benign	Het
F830045P16Rik	A	G	2: 129,302,232 (GRCm39)		probably null	Het
Fhod1	A	G	8: 106,074,439 (GRCm39)		probably benign	Het
Fign	T	C	2: 63,810,104 (GRCm39)	R389G	possibly damaging	Het
Gm13941	T	A	2: 110,931,482 (GRCm39)	E50V	unknown	Het
Kit	C	T	5: 75,771,536 (GRCm39)	T231M	probably damaging	Het
Neu3	T	C	7: 99,463,087 (GRCm39)	H212R	probably benign	Het
Nup214	G	T	2: 31,924,712 (GRCm39)	S1747I	probably damaging	Het
Or4f4b	T	C	2: 111,314,446 (GRCm39)	S224P	probably damaging	Het
Or4q3	G	T	14: 50,583,071 (GRCm39)	A276E	probably damaging	Het
Or8b12i	G	T	9: 20,082,826 (GRCm39)	L14I	probably damaging	Het
Secisbp2	T	C	13: 51,830,491 (GRCm39)		probably null	Het
Slc26a10	G	A	10: 127,010,046 (GRCm39)		probably benign	Het
Slc7a6	T	C	8: 106,906,232 (GRCm39)	S155P	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tkfc	A	G	19: 10,578,015 (GRCm39)	L38P	probably damaging	Het
Tubgcp4	A	G	2: 121,015,264 (GRCm39)	D324G	probably null	Het
Zfyve16	T	C	13: 92,644,791 (GRCm39)	H1137R	probably damaging	Het

Other mutations in Slf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slf1	APN	13	77,192,066 (GRCm39)	missense	possibly damaging	0.95
IGL01105:Slf1	APN	13	77,249,031 (GRCm39)	unclassified	probably benign
IGL01108:Slf1	APN	13	77,273,594 (GRCm39)	splice site	probably benign
IGL01642:Slf1	APN	13	77,198,034 (GRCm39)	missense	probably benign	0.00
IGL01757:Slf1	APN	13	77,232,559 (GRCm39)	missense	probably benign
IGL01887:Slf1	APN	13	77,249,101 (GRCm39)	missense	probably benign	0.02
IGL02323:Slf1	APN	13	77,199,413 (GRCm39)	missense	possibly damaging	0.87
IGL02861:Slf1	APN	13	77,274,478 (GRCm39)	splice site	probably benign
IGL02971:Slf1	APN	13	77,195,223 (GRCm39)	splice site	probably benign
IGL03088:Slf1	APN	13	77,232,554 (GRCm39)	missense	probably damaging	1.00
IGL03215:Slf1	APN	13	77,198,096 (GRCm39)	missense	probably benign	0.00
IGL02980:Slf1	UTSW	13	77,192,123 (GRCm39)	missense	possibly damaging	0.92
PIT1430001:Slf1	UTSW	13	77,198,169 (GRCm39)	splice site	probably benign
R0036:Slf1	UTSW	13	77,249,070 (GRCm39)	missense	probably benign	0.02
R0036:Slf1	UTSW	13	77,249,070 (GRCm39)	missense	probably benign	0.02
R0125:Slf1	UTSW	13	77,191,864 (GRCm39)	missense	probably benign	0.02
R0230:Slf1	UTSW	13	77,260,867 (GRCm39)	intron	probably benign
R0244:Slf1	UTSW	13	77,274,751 (GRCm39)	nonsense	probably null
R0395:Slf1	UTSW	13	77,254,088 (GRCm39)	splice site	probably benign
R0614:Slf1	UTSW	13	77,197,233 (GRCm39)	missense	probably benign	0.10
R0661:Slf1	UTSW	13	77,231,715 (GRCm39)	missense	probably benign	0.31
R0837:Slf1	UTSW	13	77,249,067 (GRCm39)	splice site	probably null
R0945:Slf1	UTSW	13	77,251,590 (GRCm39)	unclassified	probably benign
R1282:Slf1	UTSW	13	77,191,959 (GRCm39)	missense	probably damaging	0.97
R1365:Slf1	UTSW	13	77,274,490 (GRCm39)	missense	probably damaging	1.00
R1449:Slf1	UTSW	13	77,231,568 (GRCm39)	missense	probably damaging	1.00
R1646:Slf1	UTSW	13	77,214,767 (GRCm39)	nonsense	probably null
R2071:Slf1	UTSW	13	77,252,743 (GRCm39)	missense	probably benign	0.02
R2141:Slf1	UTSW	13	77,197,338 (GRCm39)	critical splice acceptor site	probably null
R2217:Slf1	UTSW	13	77,194,825 (GRCm39)	critical splice acceptor site	probably null
R2397:Slf1	UTSW	13	77,251,702 (GRCm39)	nonsense	probably null
R2520:Slf1	UTSW	13	77,199,384 (GRCm39)	missense	probably damaging	1.00
R3108:Slf1	UTSW	13	77,274,840 (GRCm39)	splice site	probably benign
R4178:Slf1	UTSW	13	77,191,688 (GRCm39)	missense	probably damaging	1.00
R4663:Slf1	UTSW	13	77,274,723 (GRCm39)	missense	probably damaging	1.00
R4730:Slf1	UTSW	13	77,194,751 (GRCm39)	missense	probably damaging	1.00
R4910:Slf1	UTSW	13	77,191,999 (GRCm39)	missense	probably benign	0.14
R4912:Slf1	UTSW	13	77,199,413 (GRCm39)	missense	probably damaging	1.00
R5122:Slf1	UTSW	13	77,198,106 (GRCm39)	missense	probably benign	0.01
R5269:Slf1	UTSW	13	77,252,700 (GRCm39)	missense	probably benign	0.33
R5336:Slf1	UTSW	13	77,254,129 (GRCm39)	makesense	probably null
R5346:Slf1	UTSW	13	77,240,490 (GRCm39)	missense	probably benign	0.00
R5445:Slf1	UTSW	13	77,239,323 (GRCm39)	missense	probably benign	0.10
R5568:Slf1	UTSW	13	77,194,823 (GRCm39)	missense	probably damaging	1.00
R5622:Slf1	UTSW	13	77,198,090 (GRCm39)	missense	probably benign	0.14
R5685:Slf1	UTSW	13	77,231,598 (GRCm39)	missense	possibly damaging	0.88
R5792:Slf1	UTSW	13	77,214,856 (GRCm39)	missense	probably benign	0.03
R5856:Slf1	UTSW	13	77,254,206 (GRCm39)	missense	possibly damaging	0.63
R6109:Slf1	UTSW	13	77,274,799 (GRCm39)	missense	probably damaging	0.99
R6245:Slf1	UTSW	13	77,232,502 (GRCm39)	missense	probably damaging	1.00
R6338:Slf1	UTSW	13	77,232,581 (GRCm39)	critical splice acceptor site	probably null
R6438:Slf1	UTSW	13	77,214,725 (GRCm39)	missense	probably damaging	1.00
R6487:Slf1	UTSW	13	77,214,736 (GRCm39)	missense	probably damaging	1.00
R6597:Slf1	UTSW	13	77,197,248 (GRCm39)	missense	probably benign	0.01
R6600:Slf1	UTSW	13	77,231,655 (GRCm39)	missense	probably benign	0.00
R6661:Slf1	UTSW	13	77,191,964 (GRCm39)	missense	probably damaging	1.00
R7268:Slf1	UTSW	13	77,214,826 (GRCm39)	missense	probably damaging	1.00
R7308:Slf1	UTSW	13	77,199,287 (GRCm39)	missense	probably benign	0.19
R7355:Slf1	UTSW	13	77,239,422 (GRCm39)	missense	probably damaging	1.00
R7546:Slf1	UTSW	13	77,197,311 (GRCm39)	missense	probably benign
R7807:Slf1	UTSW	13	77,194,823 (GRCm39)	missense	probably damaging	1.00
R8175:Slf1	UTSW	13	77,260,790 (GRCm39)	missense	probably damaging	1.00
R8385:Slf1	UTSW	13	77,254,109 (GRCm39)	missense	probably benign
R8698:Slf1	UTSW	13	77,197,284 (GRCm39)	missense	possibly damaging	0.78
R8770:Slf1	UTSW	13	77,194,766 (GRCm39)	missense	probably damaging	1.00
R8786:Slf1	UTSW	13	77,274,806 (GRCm39)	missense	possibly damaging	0.93
R8796:Slf1	UTSW	13	77,214,784 (GRCm39)	missense	probably benign	0.00
R8932:Slf1	UTSW	13	77,194,693 (GRCm39)	missense	probably damaging	1.00
R9132:Slf1	UTSW	13	77,249,073 (GRCm39)	missense	probably benign	0.24
R9243:Slf1	UTSW	13	77,273,575 (GRCm39)	missense	possibly damaging	0.95
R9274:Slf1	UTSW	13	77,191,669 (GRCm39)	makesense	probably null
R9286:Slf1	UTSW	13	77,191,932 (GRCm39)	missense	probably damaging	0.99
R9416:Slf1	UTSW	13	77,194,656 (GRCm39)	missense
R9612:Slf1	UTSW	13	77,197,204 (GRCm39)	critical splice donor site	probably null
X0018:Slf1	UTSW	13	77,199,357 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21