Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03410:Pramel21'

421730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel21

Ensembl Gene

ENSMUSG00000066688

Gene Name

PRAME like 21

Synonyms

Gm13083

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

143341573-143345165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143341851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 93 (H93Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105773]

AlphaFold

A2AGW5

Predicted Effect

probably benign
Transcript: ENSMUST00000105773
AA Change: H93Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: H93Q

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	431	7e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120556

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,220,728 (GRCm39)	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,043,393 (GRCm39)		probably benign	Het
Apba1	A	G	19: 23,914,945 (GRCm39)	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,476,238 (GRCm39)	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 105,010,501 (GRCm39)	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,340,900 (GRCm39)	V483A	probably benign	Het
Dclre1b	T	A	3: 103,715,456 (GRCm39)	D14V	probably damaging	Het
Dock5	T	C	14: 68,083,535 (GRCm39)	I125V	probably benign	Het
Dok3	G	T	13: 55,672,044 (GRCm39)	Y211*	probably null	Het
Fat4	T	C	3: 38,945,325 (GRCm39)	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,183,315 (GRCm39)	F1790S	possibly damaging	Het
Gm4787	A	T	12: 81,425,948 (GRCm39)	M70K	probably damaging	Het
Gulp1	A	T	1: 44,747,777 (GRCm39)	D10V	probably damaging	Het
Hagh	T	C	17: 25,079,916 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,956,789 (GRCm39)	E206G	probably damaging	Het
Hyou1	A	G	9: 44,299,355 (GRCm39)	E682G	probably benign	Het
Ift56	T	C	6: 38,362,435 (GRCm39)	L70P	probably damaging	Het
Igkv4-59	G	T	6: 69,415,450 (GRCm39)	A35E	probably damaging	Het
Krt78	A	G	15: 101,862,421 (GRCm39)	V80A	probably damaging	Het
Lars2	G	A	9: 123,247,841 (GRCm39)	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,515 (GRCm39)	R367W	probably damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,788,986 (GRCm39)		probably null	Het
Mmrn1	A	G	6: 60,952,819 (GRCm39)	I367V	probably benign	Het
Myo18a	T	C	11: 77,738,830 (GRCm39)	L1677P	probably damaging	Het
Neb	T	C	2: 52,209,717 (GRCm39)	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073 (GRCm38)	R155G	probably benign	Het
Nrip1	T	C	16: 76,089,379 (GRCm39)	N726S	probably benign	Het
Nyap2	A	G	1: 81,219,156 (GRCm39)	T393A	possibly damaging	Het
Oprm1	A	T	10: 6,780,051 (GRCm39)	I238F	probably damaging	Het
Or4b1b	A	G	2: 90,112,557 (GRCm39)	Y121H	probably damaging	Het
Or4b1d	G	A	2: 89,969,489 (GRCm39)		probably benign	Het
Or5m11b	T	A	2: 85,805,764 (GRCm39)	M59K	probably damaging	Het
Pcnx2	T	A	8: 126,613,779 (GRCm39)	E557D	probably damaging	Het
Pole	A	G	5: 110,472,425 (GRCm39)	I1563V	probably benign	Het
Prdx3	T	G	19: 60,859,848 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,669,501 (GRCm39)	R295K	probably null	Het
Rhbdl2	T	A	4: 123,723,463 (GRCm39)	L289*	probably null	Het
Rnps1	A	G	17: 24,640,835 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,395,823 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,603,033 (GRCm39)	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,772,436 (GRCm39)	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,047,964 (GRCm39)	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,691,662 (GRCm39)	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,662,740 (GRCm39)	E165G	probably benign	Het
Slc6a3	A	T	13: 73,686,776 (GRCm39)	I48F	probably benign	Het
Stxbp3	C	T	3: 108,709,476 (GRCm39)	C354Y	probably damaging	Het
Terb1	C	A	8: 105,199,674 (GRCm39)		probably benign	Het
Tfrc	G	A	16: 32,443,649 (GRCm39)		probably null	Het
Toporsl	A	C	4: 52,611,134 (GRCm39)	R342S	probably benign	Het
Ube2d3	T	A	3: 135,170,978 (GRCm39)	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,486 (GRCm39)	V3417L	probably benign	Het

Other mutations in Pramel21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Pramel21	APN	4	143,341,643 (GRCm39)	missense	probably benign	0.00
IGL02390:Pramel21	APN	4	143,341,895 (GRCm39)	missense	probably benign	0.29
IGL02676:Pramel21	APN	4	143,342,667 (GRCm39)	missense	possibly damaging	0.75
IGL03381:Pramel21	APN	4	143,343,625 (GRCm39)	splice site	probably benign
H8562:Pramel21	UTSW	4	143,341,920 (GRCm39)	splice site	probably benign
PIT4151001:Pramel21	UTSW	4	143,342,722 (GRCm39)	nonsense	probably null
R0157:Pramel21	UTSW	4	143,342,366 (GRCm39)	missense	probably damaging	0.98
R0352:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.92
R0494:Pramel21	UTSW	4	143,342,726 (GRCm39)	missense	probably benign	0.33
R0688:Pramel21	UTSW	4	143,343,927 (GRCm39)	missense	probably benign	0.00
R0884:Pramel21	UTSW	4	143,341,754 (GRCm39)	missense	probably benign	0.01
R1267:Pramel21	UTSW	4	143,342,304 (GRCm39)	missense	possibly damaging	0.95
R1418:Pramel21	UTSW	4	143,342,604 (GRCm39)	missense	probably benign	0.15
R1761:Pramel21	UTSW	4	143,342,438 (GRCm39)	missense	probably benign	0.00
R3148:Pramel21	UTSW	4	143,344,047 (GRCm39)	missense	probably benign	0.30
R4063:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.77
R4115:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R4760:Pramel21	UTSW	4	143,343,801 (GRCm39)	missense	probably benign	0.04
R5516:Pramel21	UTSW	4	143,342,253 (GRCm39)	missense	possibly damaging	0.49
R5603:Pramel21	UTSW	4	143,344,066 (GRCm39)	nonsense	probably null
R5724:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R5796:Pramel21	UTSW	4	143,341,778 (GRCm39)	missense	probably benign	0.12
R5879:Pramel21	UTSW	4	143,344,161 (GRCm39)	missense	possibly damaging	0.64
R6181:Pramel21	UTSW	4	143,342,828 (GRCm39)	critical splice donor site	probably null
R7155:Pramel21	UTSW	4	143,342,735 (GRCm39)	missense	probably benign	0.01
R7492:Pramel21	UTSW	4	143,342,744 (GRCm39)	missense	not run
R7913:Pramel21	UTSW	4	143,341,615 (GRCm39)	missense	possibly damaging	0.87
R7995:Pramel21	UTSW	4	143,342,570 (GRCm39)	missense	possibly damaging	0.89
R8126:Pramel21	UTSW	4	143,343,635 (GRCm39)	missense	possibly damaging	0.87
R8901:Pramel21	UTSW	4	143,343,677 (GRCm39)	missense	probably benign	0.00
R9061:Pramel21	UTSW	4	143,342,741 (GRCm39)	missense	possibly damaging	0.94
R9095:Pramel21	UTSW	4	143,341,760 (GRCm39)	missense	probably damaging	1.00
R9170:Pramel21	UTSW	4	143,341,600 (GRCm39)	missense	possibly damaging	0.78
R9445:Pramel21	UTSW	4	143,343,795 (GRCm39)	missense	probably damaging	1.00
R9666:Pramel21	UTSW	4	143,341,699 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel21	UTSW	4	143,341,802 (GRCm39)	missense	possibly damaging	0.78
Z1177:Pramel21	UTSW	4	143,342,730 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02