Mutagenetix > Incidental Mutation

Incidental Mutation 'R9339:Slc35f5'

731284

Institutional Source

Beutler Lab

Gene Symbol

Slc35f5

Ensembl Gene

ENSMUSG00000026342

Gene Name

solute carrier family 35, member F5

Synonyms

1300003P13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R9339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125488332-125523557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125517628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 116 (I116T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027580]

AlphaFold

Q8R314

Predicted Effect

silent
Transcript: ENSMUST00000027580

SMART Domains

Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
transmembrane domain	69	86	N/A	INTRINSIC
transmembrane domain	101	120	N/A	INTRINSIC
Pfam:EamA	226	317	2.1e-8	PFAM
transmembrane domain	329	348	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	397	419	N/A	INTRINSIC
transmembrane domain	421	443	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189443
AA Change: I116T

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,521 (GRCm39)	E304G	unknown	Het
4933436I01Rik	T	A	X: 66,964,689 (GRCm39)	K57*	probably null	Het
Aar2	T	C	2: 156,392,893 (GRCm39)	V94A	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam25	T	C	8: 41,206,911 (GRCm39)	V59A	probably damaging	Het
Ampd2	T	C	3: 107,987,616 (GRCm39)	D103G	probably damaging	Het
Ankrd12	A	G	17: 66,291,408 (GRCm39)	S1342P	probably benign	Het
Atp13a2	A	G	4: 140,730,571 (GRCm39)	T739A	probably benign	Het
Catsperg1	T	A	7: 28,894,885 (GRCm39)	N571Y	probably benign	Het
Cela3b	A	G	4: 137,152,355 (GRCm39)	I74T	probably damaging	Het
Cfhr1	A	G	1: 139,485,293 (GRCm39)	L51P	probably benign	Het
Cfhr4	T	A	1: 139,682,044 (GRCm39)	Y184F	probably benign	Het
Ckap5	T	A	2: 91,396,100 (GRCm39)	D534E	probably benign	Het
Cstf3	C	T	2: 104,493,778 (GRCm39)	P594L	probably damaging	Het
Ctdp1	A	G	18: 80,492,689 (GRCm39)	L602P	probably damaging	Het
Defa24	A	G	8: 22,224,559 (GRCm39)	T3A	probably damaging	Het
Dmgdh	A	G	13: 93,847,941 (GRCm39)	H546R	probably benign	Het
Dscam	A	G	16: 96,517,263 (GRCm39)	V882A	possibly damaging	Het
Dydc2	A	G	14: 40,771,260 (GRCm39)	*140Q	probably null	Het
Ehd4	T	C	2: 119,921,708 (GRCm39)	D516G	possibly damaging	Het
En1	T	C	1: 120,534,893 (GRCm39)	V394A	unknown	Het
Erich3	T	G	3: 154,468,872 (GRCm39)	L1108R	unknown	Het
Erp27	A	G	6: 136,896,945 (GRCm39)	S86P	probably benign	Het
Esr1	A	C	10: 4,696,798 (GRCm39)	S216R	probably damaging	Het
Fbxo40	A	T	16: 36,789,286 (GRCm39)	I608N	probably damaging	Het
Fcna	G	A	2: 25,517,782 (GRCm39)	Q23*	probably null	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gata6	A	G	18: 11,054,520 (GRCm39)	T150A	probably damaging	Het
Gbp2b	T	A	3: 142,317,178 (GRCm39)	H511Q	probably benign	Het
Gpr171	C	A	3: 59,005,362 (GRCm39)	V138L	probably damaging	Het
Grhl2	G	A	15: 37,344,904 (GRCm39)	V509I	probably benign	Het
Gzmd	G	A	14: 56,367,869 (GRCm39)	P135S	probably damaging	Het
Hhatl	C	A	9: 121,618,862 (GRCm39)	C90F	probably benign	Het
Hspg2	A	G	4: 137,278,480 (GRCm39)	K3050R	probably benign	Het
Kcnh3	T	C	15: 99,130,786 (GRCm39)	Y468H	probably damaging	Het
Lhfpl6	A	G	3: 52,950,891 (GRCm39)	H55R	probably benign	Het
Lpgat1	T	C	1: 191,451,488 (GRCm39)	V38A	probably benign	Het
Lrrc49	A	G	9: 60,510,031 (GRCm39)	I479T	probably benign	Het
Map1b	A	T	13: 99,567,570 (GRCm39)	I1717N	unknown	Het
Map3k20	G	T	2: 72,272,216 (GRCm39)	R781S	possibly damaging	Het
Mcm3ap	A	G	10: 76,306,358 (GRCm39)	E157G	probably benign	Het
Mylk2	A	G	2: 152,755,370 (GRCm39)	E178G	probably damaging	Het
Naaladl2	A	G	3: 24,057,146 (GRCm39)	L605P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nt5el	C	T	13: 105,246,114 (GRCm39)	T225I	probably benign	Het
Or10h28	T	C	17: 33,488,631 (GRCm39)	V311A	probably benign	Het
Or4a76	T	C	2: 89,460,555 (GRCm39)	E229G	probably damaging	Het
Padi3	A	T	4: 140,522,928 (GRCm39)	I348N	probably benign	Het
Pcdh18	T	C	3: 49,709,335 (GRCm39)	D660G	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Pkhd1l1	T	C	15: 44,452,949 (GRCm39)	V3958A	probably damaging	Het
Ppargc1b	C	A	18: 61,456,267 (GRCm39)	C80F	probably damaging	Het
Rbm28	T	C	6: 29,128,674 (GRCm39)	E590G	probably benign	Het
Rbm47	T	C	5: 66,183,826 (GRCm39)	E259G	possibly damaging	Het
Rint1	A	G	5: 23,993,355 (GRCm39)	*37W	probably null	Het
Sacs	G	A	14: 61,443,309 (GRCm39)	R1785Q	probably benign	Het
Samm50	T	C	15: 84,095,276 (GRCm39)	C421R	probably benign	Het
Scnn1b	G	T	7: 121,511,254 (GRCm39)	A314S	probably damaging	Het
Sf3b3	C	A	8: 111,542,854 (GRCm39)	V868L	probably benign	Het
Sirt5	G	T	13: 43,530,327 (GRCm39)	V136L	probably benign	Het
Slc1a7	T	C	4: 107,850,237 (GRCm39)	V116A	probably damaging	Het
Slc24a4	G	A	12: 102,230,638 (GRCm39)	V510M	probably damaging	Het
Spata4	T	C	8: 55,053,899 (GRCm39)	S22P	probably benign	Het
Sqstm1	A	G	11: 50,091,725 (GRCm39)	V324A	probably benign	Het
Stmnd1	G	A	13: 46,453,079 (GRCm39)	A252T	probably benign	Het
Tbl1xr1	C	A	3: 22,258,150 (GRCm39)	N470K	possibly damaging	Het
Thap12	T	C	7: 98,364,323 (GRCm39)	S164P	possibly damaging	Het
Thsd1	A	G	8: 22,733,898 (GRCm39)	Y315C	probably damaging	Het
Tnni2	C	A	7: 141,997,672 (GRCm39)	D102E	probably damaging	Het
Trav7n-4	A	C	14: 53,328,849 (GRCm39)	N16T	probably benign	Het
Trpm7	T	C	2: 126,665,906 (GRCm39)	K900R	probably benign	Het
Tspoap1	T	A	11: 87,668,839 (GRCm39)	C1371S	probably benign	Het
Tssk5	A	G	15: 76,257,156 (GRCm39)	M242T	possibly damaging	Het
Ubn2	A	G	6: 38,460,079 (GRCm39)	I607V	probably benign	Het
Ubr2	A	T	17: 47,284,865 (GRCm39)	V551E	probably benign	Het
Vipr2	A	G	12: 116,058,344 (GRCm39)	N87S	probably damaging	Het
Vmn2r18	T	A	5: 151,485,132 (GRCm39)	K787N	probably damaging	Het
Wwc2	A	T	8: 48,353,859 (GRCm39)	W92R	probably damaging	Het
Zfp141	A	G	7: 42,125,639 (GRCm39)	Y278H	probably damaging	Het
Zfp827	T	C	8: 79,844,887 (GRCm39)	S686P	probably benign	Het

Other mutations in Slc35f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc35f5	APN	1	125,515,161 (GRCm39)	missense	probably damaging	1.00
IGL01844:Slc35f5	APN	1	125,517,612 (GRCm39)	missense	probably damaging	0.96
IGL02218:Slc35f5	APN	1	125,512,292 (GRCm39)	missense	probably damaging	1.00
IGL02586:Slc35f5	APN	1	125,512,273 (GRCm39)	missense	probably damaging	1.00
IGL03000:Slc35f5	APN	1	125,502,479 (GRCm39)	missense	probably damaging	1.00
IGL03160:Slc35f5	APN	1	125,502,472 (GRCm39)	missense	probably damaging	1.00
IGL03181:Slc35f5	APN	1	125,512,922 (GRCm39)	missense	probably damaging	1.00
IGL02984:Slc35f5	UTSW	1	125,490,250 (GRCm39)	missense	probably benign	0.28
R0127:Slc35f5	UTSW	1	125,503,942 (GRCm39)	missense	probably damaging	1.00
R0390:Slc35f5	UTSW	1	125,512,832 (GRCm39)	missense	probably damaging	1.00
R0513:Slc35f5	UTSW	1	125,503,906 (GRCm39)	splice site	probably benign
R1701:Slc35f5	UTSW	1	125,498,330 (GRCm39)	missense	possibly damaging	0.77
R1716:Slc35f5	UTSW	1	125,512,269 (GRCm39)	missense	possibly damaging	0.65
R2211:Slc35f5	UTSW	1	125,507,001 (GRCm39)	missense	possibly damaging	0.74
R3024:Slc35f5	UTSW	1	125,496,335 (GRCm39)	missense	probably benign	0.00
R3870:Slc35f5	UTSW	1	125,490,098 (GRCm39)	missense	probably benign	0.00
R4239:Slc35f5	UTSW	1	125,500,211 (GRCm39)	missense	possibly damaging	0.94
R4547:Slc35f5	UTSW	1	125,500,119 (GRCm39)	missense	probably benign	0.00
R5622:Slc35f5	UTSW	1	125,517,693 (GRCm39)	missense	probably damaging	1.00
R5688:Slc35f5	UTSW	1	125,518,775 (GRCm39)	missense	probably benign	0.23
R5876:Slc35f5	UTSW	1	125,515,100 (GRCm39)	critical splice acceptor site	probably null
R6701:Slc35f5	UTSW	1	125,490,347 (GRCm39)	missense	probably damaging	1.00
R7292:Slc35f5	UTSW	1	125,500,222 (GRCm39)	missense	probably damaging	0.99
R7368:Slc35f5	UTSW	1	125,512,256 (GRCm39)	missense	probably damaging	1.00
R7530:Slc35f5	UTSW	1	125,512,275 (GRCm39)	missense	probably damaging	1.00
R7807:Slc35f5	UTSW	1	125,512,278 (GRCm39)	missense	probably damaging	1.00
R8004:Slc35f5	UTSW	1	125,517,624 (GRCm39)	missense	probably damaging	0.98
R8289:Slc35f5	UTSW	1	125,490,252 (GRCm39)	nonsense	probably null
R8435:Slc35f5	UTSW	1	125,488,994 (GRCm39)	nonsense	probably null
R9011:Slc35f5	UTSW	1	125,490,050 (GRCm39)	missense	probably benign	0.03
R9365:Slc35f5	UTSW	1	125,496,333 (GRCm39)	missense	probably benign	0.08
Z1177:Slc35f5	UTSW	1	125,512,971 (GRCm39)	critical splice donor site	probably null
Z1177:Slc35f5	UTSW	1	125,488,442 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCATATTATCAGTCTTTATCCTGTCT -3'
(R):5'- TGTAGTAATTCTCCACTCACTGAGC -3'

Sequencing Primer
(F):5'- CATTGAAGGTAAAAAATTGCC -3'
(R):5'- GGAAGACATTTGACATTGGCCTC -3'

Posted On

2022-10-12