Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Slf2'

708193

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

6030443O07Rik, Fam178a

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44919590-44971738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44931957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 671 (R671G)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096053]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000096053
AA Change: R671G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: R671G

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
low complexity region	211	226	N/A	INTRINSIC
coiled coil region	239	266	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
low complexity region	572	582	N/A	INTRINSIC
low complexity region	601	616	N/A	INTRINSIC
Pfam:FAM178	647	1021	3.9e-146	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	T	7: 82,091,656 (GRCm39)	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,807,428 (GRCm39)	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,439,783 (GRCm39)	D537Y	probably benign	Het
Anxa4	C	T	6: 86,742,775 (GRCm39)		probably benign	Het
Arfgap3	T	A	15: 83,191,127 (GRCm39)	I464L	possibly damaging	Het
Asb2	C	T	12: 103,296,698 (GRCm39)	V320I	probably damaging	Het
Axl	T	C	7: 25,462,752 (GRCm39)	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,461,394 (GRCm39)	H139R	probably benign	Het
Birc6	G	A	17: 74,965,347 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,067,787 (GRCm39)	F126Y	probably damaging	Het
Chrnb4	T	A	9: 54,951,167 (GRCm39)	D32V	probably benign	Het
Chst15	C	A	7: 131,872,257 (GRCm39)	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,399,463 (GRCm39)	I439V	probably benign	Het
Crisp2	T	A	17: 41,078,200 (GRCm39)	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,801,997 (GRCm39)	T354M	probably benign	Het
Cul1	T	A	6: 47,479,426 (GRCm39)	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,752,920 (GRCm39)	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,398,581 (GRCm39)	D232G	probably damaging	Het
Dnah1	G	T	14: 31,038,620 (GRCm39)	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,840,384 (GRCm39)	V304A	probably benign	Het
Dok6	T	C	18: 89,492,133 (GRCm39)	N148S	probably benign	Het
Fnta	A	T	8: 26,501,119 (GRCm39)	W134R	probably damaging	Het
Garin5b	T	A	7: 4,761,605 (GRCm39)	Y369F		Het
Gm32742	T	G	9: 51,052,544 (GRCm39)	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,208,318 (GRCm39)	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,268,350 (GRCm39)	N486D	probably benign	Het
H2-Q4	T	G	17: 35,601,909 (GRCm39)	F257C	probably damaging	Het
Hfe	A	G	13: 23,890,119 (GRCm39)	V218A	probably benign	Het
Htr2b	A	G	1: 86,027,294 (GRCm39)	V404A	probably benign	Het
Hyou1	T	A	9: 44,300,926 (GRCm39)		probably null	Het
Ikbkb	T	C	8: 23,150,444 (GRCm39)	D746G	probably benign	Het
Ikzf4	T	C	10: 128,472,623 (GRCm39)	N251S	probably benign	Het
Il23r	A	C	6: 67,403,592 (GRCm39)	N436K	probably damaging	Het
Impg2	A	T	16: 56,072,470 (GRCm39)	I301L	probably benign	Het
Irf4	A	T	13: 30,936,706 (GRCm39)	M146L	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,704,777 (GRCm39)	S665G	probably damaging	Het
Kiz	T	C	2: 146,794,927 (GRCm39)	S596P	probably damaging	Het
Kpna2	T	C	11: 106,880,292 (GRCm39)	E452G	probably damaging	Het
Lclat1	A	G	17: 73,468,937 (GRCm39)	Y39C	probably damaging	Het
Lig3	A	G	11: 82,686,971 (GRCm39)	S705G	probably benign	Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map3k8	C	T	18: 4,349,170 (GRCm39)	M49I	probably benign	Het
Mep1b	A	G	18: 21,209,431 (GRCm39)	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,857,533 (GRCm39)	S342R	probably benign	Het
Mthfd2l	G	T	5: 91,109,172 (GRCm39)	V201L	possibly damaging	Het
Naip6	G	T	13: 100,437,893 (GRCm39)	T371K	possibly damaging	Het
Naxd	T	C	8: 11,555,504 (GRCm39)	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,456,916 (GRCm39)	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e17	A	G	11: 73,831,470 (GRCm39)	T133A	probably benign	Het
Or6c75	A	T	10: 129,337,364 (GRCm39)	M196L	probably benign	Het
Or8b8	A	G	9: 37,808,712 (GRCm39)	E4G	probably benign	Het
Or8c16	T	G	9: 38,130,683 (GRCm39)	L185R	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Polq	T	C	16: 36,862,252 (GRCm39)	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 21,185,499 (GRCm39)		probably null	Het
Prrc1	A	G	18: 57,522,317 (GRCm39)	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,541,160 (GRCm39)	V116D	probably damaging	Het
Qpctl	C	T	7: 18,878,599 (GRCm39)	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,278,280 (GRCm39)	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,211,498 (GRCm39)	N385K	probably benign	Het
Rbbp8nl	A	G	2: 179,921,053 (GRCm39)	S444P	probably benign	Het
Resf1	T	C	6: 149,236,180 (GRCm39)	F1500S	probably damaging	Het
Sf3a1	G	A	11: 4,110,494 (GRCm39)	A3T	unknown	Het
Slc1a4	A	G	11: 20,282,025 (GRCm39)	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,281,522 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,940,380 (GRCm39)	I702T	probably benign	Het
Slc36a4	T	A	9: 15,633,319 (GRCm39)		probably null	Het
Smarcc1	A	G	9: 110,035,220 (GRCm39)	K881R	probably null	Het
Srsf11	A	G	3: 157,717,836 (GRCm39)	V414A	unknown	Het
Tcn2	T	C	11: 3,873,446 (GRCm39)	N300S	probably damaging	Het
Tecta	T	C	9: 42,249,147 (GRCm39)	K1905R	probably damaging	Het
Tex30	T	G	1: 44,130,753 (GRCm39)		probably null	Het
Tktl2	A	T	8: 66,965,974 (GRCm39)	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,398,881 (GRCm39)	Q183K	probably benign	Het
Trib2	A	C	12: 15,865,413 (GRCm39)	I30R	probably benign	Het
Tti1	A	G	2: 157,842,692 (GRCm39)	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313 (GRCm39)		probably null	Het
Vmn2r112	A	G	17: 22,822,479 (GRCm39)	T386A	probably damaging	Het
Vps16	T	C	2: 130,283,823 (GRCm39)		probably null	Het
Zan	T	G	5: 137,434,745 (GRCm39)	N2186T	unknown	Het
Zdhhc11	C	T	13: 74,121,800 (GRCm39)	R104*	probably null	Het
Zfp318	T	G	17: 46,721,284 (GRCm39)	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,742,242 (GRCm39)	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,775,674 (GRCm39)	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,461,335 (GRCm39)	T266A	probably benign	Het

Other mutations in Slf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Slf2	APN	19	44,961,706 (GRCm39)	critical splice donor site	probably null
IGL01904:Slf2	APN	19	44,937,580 (GRCm39)	critical splice donor site	probably null
IGL02429:Slf2	APN	19	44,930,167 (GRCm39)	missense	probably benign
IGL02899:Slf2	APN	19	44,930,459 (GRCm39)	missense	probably benign	0.26
Evidentiary	UTSW	19	44,926,863 (GRCm39)	splice site	probably null
BB004:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
BB014:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
R0060:Slf2	UTSW	19	44,936,443 (GRCm39)	missense	probably damaging	1.00
R0731:Slf2	UTSW	19	44,964,165 (GRCm39)	splice site	probably benign
R1158:Slf2	UTSW	19	44,919,855 (GRCm39)	missense	probably damaging	0.99
R1590:Slf2	UTSW	19	44,930,512 (GRCm39)	nonsense	probably null
R1608:Slf2	UTSW	19	44,937,440 (GRCm39)	missense	probably benign	0.08
R1823:Slf2	UTSW	19	44,923,687 (GRCm39)	missense	possibly damaging	0.86
R2511:Slf2	UTSW	19	44,930,045 (GRCm39)	missense	possibly damaging	0.86
R3040:Slf2	UTSW	19	44,969,008 (GRCm39)	missense	probably damaging	0.99
R3236:Slf2	UTSW	19	44,930,773 (GRCm39)	missense	probably benign	0.33
R3237:Slf2	UTSW	19	44,930,773 (GRCm39)	missense	probably benign	0.33
R3552:Slf2	UTSW	19	44,923,390 (GRCm39)	nonsense	probably null
R3754:Slf2	UTSW	19	44,961,676 (GRCm39)	missense	probably benign
R4683:Slf2	UTSW	19	44,923,920 (GRCm39)	missense	probably benign	0.22
R4757:Slf2	UTSW	19	44,923,497 (GRCm39)	missense	probably benign
R4782:Slf2	UTSW	19	44,923,364 (GRCm39)	splice site	probably null
R4914:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4915:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4916:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4917:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4918:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R5069:Slf2	UTSW	19	44,923,692 (GRCm39)	missense	possibly damaging	0.94
R5092:Slf2	UTSW	19	44,940,523 (GRCm39)	missense	probably benign	0.14
R5215:Slf2	UTSW	19	44,936,476 (GRCm39)	missense	probably damaging	0.99
R5276:Slf2	UTSW	19	44,923,600 (GRCm39)	missense	possibly damaging	0.84
R5656:Slf2	UTSW	19	44,961,674 (GRCm39)	missense	probably benign	0.13
R6132:Slf2	UTSW	19	44,949,300 (GRCm39)	missense	possibly damaging	0.60
R6358:Slf2	UTSW	19	44,923,864 (GRCm39)	missense	probably benign	0.34
R6481:Slf2	UTSW	19	44,961,603 (GRCm39)	missense	probably benign	0.01
R6809:Slf2	UTSW	19	44,931,907 (GRCm39)	missense	probably damaging	0.98
R7263:Slf2	UTSW	19	44,926,863 (GRCm39)	splice site	probably null
R7912:Slf2	UTSW	19	44,930,682 (GRCm39)	missense	probably damaging	0.96
R7914:Slf2	UTSW	19	44,947,499 (GRCm39)	missense	possibly damaging	0.71
R7927:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
R8006:Slf2	UTSW	19	44,930,756 (GRCm39)	missense	probably damaging	0.99
R8154:Slf2	UTSW	19	44,923,596 (GRCm39)	missense	possibly damaging	0.94
R8746:Slf2	UTSW	19	44,962,063 (GRCm39)	missense	probably damaging	1.00
R9075:Slf2	UTSW	19	44,930,860 (GRCm39)	missense	probably damaging	0.99
R9354:Slf2	UTSW	19	44,936,471 (GRCm39)	missense	probably damaging	0.98
R9369:Slf2	UTSW	19	44,923,953 (GRCm39)	nonsense	probably null
R9412:Slf2	UTSW	19	44,930,460 (GRCm39)	missense	probably benign	0.31
R9743:Slf2	UTSW	19	44,930,572 (GRCm39)	missense	probably benign	0.40
R9778:Slf2	UTSW	19	44,961,666 (GRCm39)	missense	probably benign	0.04
Z1176:Slf2	UTSW	19	44,930,104 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCATGGTGGTGAAACTTTTCC -3'
(R):5'- ATATCTAGTTCTCTTGGGACTCTTG -3'

Sequencing Primer
(F):5'- GTCATCCAGACCCAGGTTACTG -3'
(R):5'- ACTCTTGGTGGACTGGGGAC -3'

Posted On

2022-04-18