Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Setd5'

43266

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

038679-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113115033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 272 (I272F)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042889] [ENSMUST00000113155] [ENSMUST00000113157]

AlphaFold

Q5XJV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042889
AA Change: I253F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: I253F

Domain	Start	End	E-Value	Type
low complexity region	165	180	N/A	INTRINSIC
SET	272	396	1.09e-23	SMART
low complexity region	417	429	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	476	495	N/A	INTRINSIC
low complexity region	539	552	N/A	INTRINSIC
low complexity region	561	572	N/A	INTRINSIC
low complexity region	600	621	N/A	INTRINSIC
low complexity region	635	650	N/A	INTRINSIC
low complexity region	850	866	N/A	INTRINSIC
low complexity region	1082	1107	N/A	INTRINSIC
low complexity region	1122	1138	N/A	INTRINSIC
low complexity region	1250	1259	N/A	INTRINSIC
low complexity region	1283	1301	N/A	INTRINSIC
low complexity region	1335	1346	N/A	INTRINSIC
low complexity region	1352	1372	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113155
AA Change: I272F

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

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: I272F

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
SET	291	415	1.09e-23	SMART
low complexity region	436	448	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	558	571	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC
low complexity region	619	640	N/A	INTRINSIC
low complexity region	654	669	N/A	INTRINSIC
low complexity region	869	885	N/A	INTRINSIC
low complexity region	1101	1126	N/A	INTRINSIC
low complexity region	1141	1157	N/A	INTRINSIC
low complexity region	1269	1278	N/A	INTRINSIC
low complexity region	1302	1320	N/A	INTRINSIC
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1371	1391	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113157
AA Change: I272F

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

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: I272F

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
SET	291	415	1.09e-23	SMART
low complexity region	436	448	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	558	571	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC
low complexity region	619	640	N/A	INTRINSIC
low complexity region	654	669	N/A	INTRINSIC
low complexity region	869	885	N/A	INTRINSIC
low complexity region	1101	1126	N/A	INTRINSIC
low complexity region	1141	1157	N/A	INTRINSIC
low complexity region	1269	1278	N/A	INTRINSIC
low complexity region	1302	1320	N/A	INTRINSIC
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1371	1391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204377

Meta Mutation Damage Score

0.1986

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,332,145	V269A	probably benign	Het
Acsl1	G	A	8: 46,531,072	G543R	probably damaging	Het
Adam18	T	C	8: 24,651,822	N244D	probably benign	Het
Adgra3	C	T	5: 49,990,265	V478M	probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Arhgef10	A	T	8: 14,991,070	E723V	probably damaging	Het
Arid3a	C	A	10: 79,951,294	N519K	possibly damaging	Het
Atrn	T	A	2: 130,999,165	Y1162*	probably null	Het
Cacng5	T	A	11: 107,877,951	N172Y	probably benign	Het
Cct8	C	T	16: 87,487,706	V198M	probably damaging	Het
Cep192	G	A	18: 67,858,018	S1857N	probably damaging	Het
Cherp	A	T	8: 72,463,147	D657E	possibly damaging	Het
Clca2	T	G	3: 145,090,849	D199A	probably damaging	Het
Cops7b	A	G	1: 86,605,076	T219A	probably benign	Het
Crb1	C	T	1: 139,198,614	M1392I	probably damaging	Het
Csf3r	A	C	4: 126,043,823	E833D	probably damaging	Het
Cutc	A	G	19: 43,768,216	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,463,005	L17P	probably damaging	Het
D430042O09Rik	T	C	7: 125,843,346	L809S	probably benign	Het
D5Ertd615e	T	A	5: 45,163,454		noncoding transcript	Het
Ddx60	G	T	8: 61,969,657	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,520,860	T268I	probably damaging	Het
Dgke	T	C	11: 89,052,470	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,855,687		probably benign	Het
Dll3	A	G	7: 28,301,549	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,714,941		probably null	Het
Duox1	T	C	2: 122,346,380	F1461L	probably damaging	Het
Enpep	A	G	3: 129,312,674	V301A	possibly damaging	Het
Eny2	T	A	15: 44,435,604		probably null	Het
Esr1	A	G	10: 4,997,911	D488G	probably damaging	Het
Ets1	A	G	9: 32,730,180	K110E	probably damaging	Het
Eya2	T	A	2: 165,715,956	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,472,688	D223A	possibly damaging	Het
Fbxo18	A	G	2: 11,758,419	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,317,593	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,415,914	V23A	probably damaging	Het
Foxp3	A	G	X: 7,587,344	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,483,708	F250S	probably damaging	Het
Gaa	A	G	11: 119,281,236	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,139,551	V816A	probably benign	Het
Glb1l3	T	A	9: 26,829,093	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,264,968	E101G	possibly damaging	Het
Hydin	A	C	8: 110,599,088	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683	Y29C	probably damaging	Het
Ints7	T	A	1: 191,614,554		probably null	Het
Iqub	T	C	6: 24,505,810	E33G	probably benign	Het
Itgb1bp2	T	A	X: 101,449,200	C10S	probably damaging	Het
Kcnd1	T	A	X: 7,831,222	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,452,640	L135P	probably damaging	Het
Ksr1	T	C	11: 79,025,283	D574G	probably damaging	Het
Lama5	C	T	2: 180,184,457	R2331H	probably benign	Het
Larp1	C	A	11: 58,042,820	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,534,552		probably benign	Het
Lmbrd1	T	A	1: 24,746,797		probably benign	Het
Methig1	A	T	15: 100,374,944	K53*	probably null	Het
Mfap3	T	A	11: 57,529,643	I150N	probably damaging	Het
Mug1	A	T	6: 121,840,227	Q85L	probably benign	Het
Npl	A	G	1: 153,515,409	V200A	probably damaging	Het
Nuf2	A	T	1: 169,498,934		probably benign	Het
Obscn	A	G	11: 59,112,707	V1255A	probably damaging	Het
Olfr186	C	T	16: 59,027,128	V260M	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr916	T	C	9: 38,658,182	D70G	probably damaging	Het
P2rx1	T	C	11: 73,012,961	V283A	probably damaging	Het
Pex2	C	A	3: 5,561,295	L151F	probably damaging	Het
Pias1	A	G	9: 62,893,118		probably benign	Het
Pmfbp1	A	T	8: 109,530,473		probably benign	Het
Pogz	A	G	3: 94,876,636	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,503,241		probably null	Het
Prl	G	A	13: 27,064,928	D189N	probably damaging	Het
Prpf6	A	G	2: 181,651,127	N794S	probably benign	Het
Prr36	G	A	8: 4,213,930	Q579*	probably null	Het
Ptprq	A	T	10: 107,643,994	Y1138*	probably null	Het
Rabepk	A	T	2: 34,785,580	H179Q	probably damaging	Het
Rest	T	C	5: 77,282,751	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,464,216		probably benign	Het
Rnpepl1	T	C	1: 92,918,865		probably benign	Het
Sacs	T	A	14: 61,191,479	L329Q	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Sgk1	G	T	10: 21,996,310	A262S	probably benign	Het
Skint2	G	A	4: 112,624,041	V34I	possibly damaging	Het
Skint5	G	C	4: 113,655,672	Q888E	unknown	Het
Slc4a3	T	C	1: 75,551,828		probably benign	Het
Sox10	T	C	15: 79,163,319	E133G	probably damaging	Het
Spryd3	G	A	15: 102,130,400	R129*	probably null	Het
Stag1	T	A	9: 100,928,091	N782K	probably benign	Het
Stam	T	C	2: 14,117,495	L132P	probably damaging	Het
Stard9	T	A	2: 120,697,596	S1445T	probably damaging	Het
Syt5	C	T	7: 4,543,109	R94Q	probably benign	Het
Tbc1d23	A	T	16: 57,171,814	H594Q	probably damaging	Het
Tecta	T	A	9: 42,337,939	I1871F	probably damaging	Het
Tek	A	G	4: 94,804,312	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643	F469L	probably damaging	Het
Trove2	A	T	1: 143,757,751	D536E	possibly damaging	Het
Tyr	T	C	7: 87,493,221	S44G	possibly damaging	Het
Usp20	T	A	2: 31,017,475	V673E	probably benign	Het
Usp28	T	C	9: 49,037,213	S873P	probably damaging	Het
Usp43	C	T	11: 67,897,274	V306M	possibly damaging	Het
Wdr17	G	T	8: 54,651,421		probably null	Het
Wsb2	T	G	5: 117,376,679		probably benign	Het
Xkrx	A	T	X: 134,150,966	L312Q	probably damaging	Het

Other mutations in Setd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Setd5	APN	6	113111414	missense	probably damaging	1.00
IGL02102:Setd5	APN	6	113150985	nonsense	probably null
IGL02105:Setd5	APN	6	113117580	missense	probably damaging	1.00
IGL02202:Setd5	APN	6	113151015	missense	probably benign	0.01
IGL02221:Setd5	APN	6	113121170	splice site	probably benign
IGL02382:Setd5	APN	6	113143640	missense	probably benign
IGL02394:Setd5	APN	6	113110898	missense	probably benign	0.00
IGL02442:Setd5	APN	6	113110380	missense	possibly damaging	0.93
IGL02480:Setd5	APN	6	113143809	missense	probably damaging	1.00
IGL02940:Setd5	APN	6	113114938	missense	possibly damaging	0.92
R0320:Setd5	UTSW	6	113111481	missense	probably damaging	1.00
R0514:Setd5	UTSW	6	113119437	nonsense	probably null
R1528:Setd5	UTSW	6	113121738	missense	probably damaging	0.99
R1530:Setd5	UTSW	6	113109913	missense	probably damaging	1.00
R2176:Setd5	UTSW	6	113151153	missense	probably benign	0.23
R2191:Setd5	UTSW	6	113111429	nonsense	probably null
R2286:Setd5	UTSW	6	113119610	missense	possibly damaging	0.69
R4163:Setd5	UTSW	6	113119584	missense	probably benign
R4294:Setd5	UTSW	6	113111320	intron	probably benign
R4300:Setd5	UTSW	6	113150162	missense	probably damaging	1.00
R4342:Setd5	UTSW	6	113111320	intron	probably benign
R4370:Setd5	UTSW	6	113121805	missense	probably damaging	1.00
R4854:Setd5	UTSW	6	113151399	missense	probably damaging	1.00
R4858:Setd5	UTSW	6	113149566	missense	probably damaging	1.00
R5057:Setd5	UTSW	6	113137961	missense	probably damaging	0.96
R5345:Setd5	UTSW	6	113116007	missense	probably damaging	1.00
R5529:Setd5	UTSW	6	113121568	missense	probably damaging	1.00
R5556:Setd5	UTSW	6	113147502	missense	probably benign	0.00
R5582:Setd5	UTSW	6	113114925	missense	probably damaging	1.00
R5838:Setd5	UTSW	6	113119435	missense	probably benign	0.40
R5941:Setd5	UTSW	6	113128490	missense	probably damaging	1.00
R6009:Setd5	UTSW	6	113110519	missense	probably damaging	0.99
R6146:Setd5	UTSW	6	113121812	critical splice donor site	probably null
R6394:Setd5	UTSW	6	113115544	missense	probably damaging	1.00
R6694:Setd5	UTSW	6	113143708	missense	probably benign
R7058:Setd5	UTSW	6	113115571	missense	probably benign	0.16
R7060:Setd5	UTSW	6	113117382	missense	probably damaging	1.00
R7199:Setd5	UTSW	6	113121138	missense	probably benign	0.03
R7238:Setd5	UTSW	6	113121130	missense	probably damaging	1.00
R7296:Setd5	UTSW	6	113147557	missense	probably benign	0.21
R7438:Setd5	UTSW	6	113115082	missense	possibly damaging	0.74
R7515:Setd5	UTSW	6	113110889	missense	probably damaging	1.00
R7621:Setd5	UTSW	6	113144049	missense	possibly damaging	0.85
R7652:Setd5	UTSW	6	113121764	missense	probably damaging	1.00
R7986:Setd5	UTSW	6	113128457	missense	probably benign	0.00
R8083:Setd5	UTSW	6	113115010	missense	probably damaging	1.00
R8175:Setd5	UTSW	6	113114913	missense	probably damaging	1.00
R8252:Setd5	UTSW	6	113150955	missense	probably benign	0.01
R8268:Setd5	UTSW	6	113149690	critical splice donor site	probably null
R8271:Setd5	UTSW	6	113115070	missense	possibly damaging	0.58
R8424:Setd5	UTSW	6	113149683	missense	probably benign	0.12
R8508:Setd5	UTSW	6	113121087	missense	probably damaging	1.00
R8801:Setd5	UTSW	6	113150892	missense	possibly damaging	0.95
R8864:Setd5	UTSW	6	113111508	missense	probably damaging	1.00
R9227:Setd5	UTSW	6	113121794	missense	possibly damaging	0.92
R9522:Setd5	UTSW	6	113115034	missense	probably damaging	1.00
R9588:Setd5	UTSW	6	113144064	missense	probably damaging	1.00
X0017:Setd5	UTSW	6	113150168	missense	probably null	1.00
Z1176:Setd5	UTSW	6	113138096	missense	probably benign
Z1191:Setd5	UTSW	6	113114996	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TACCACTGAGGGCTGGGAAAATCG -3'
(R):5'- AGAGTGTCCAAAGCCAAATCTCTTGC -3'

Sequencing Primer
(F):5'- CTGGGAAAATCGGATAAGACTATG -3'
(R):5'- TTCCAATTAGTGGTCCCAGAG -3'

Posted On

2013-05-23