Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02957:Pramel1'

365164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

PRAME like 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02957

Quality Score

Status

Chromosome

Chromosomal Location

143120998-143126730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143124168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 281 (H281R)

Ref Sequence

ENSEMBL: ENSMUSP00000043718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037419]

AlphaFold

Q99MW3

Predicted Effect

probably benign
Transcript: ENSMUST00000037419
AA Change: H281R

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: H281R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	203	396	1e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119019

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,509,945 (GRCm39)	D262G	probably damaging	Het
Abtb3	T	A	10: 85,469,701 (GRCm39)	M405K	probably damaging	Het
Abtb3	C	T	10: 85,467,150 (GRCm39)		probably benign	Het
Ahcyl1	G	T	3: 107,574,958 (GRCm39)	Q462K	probably damaging	Het
C8b	A	G	4: 104,623,652 (GRCm39)	T20A	probably benign	Het
Casd1	T	A	6: 4,634,068 (GRCm39)	Y594N	possibly damaging	Het
Crtc2	C	T	3: 90,169,840 (GRCm39)	P412L	probably damaging	Het
Cyp3a44	T	A	5: 145,716,472 (GRCm39)	R373*	probably null	Het
Dnah10	A	G	5: 124,840,197 (GRCm39)	D1277G	probably benign	Het
Dnah2	A	T	11: 69,339,333 (GRCm39)	V3058E	possibly damaging	Het
Eif3l	T	C	15: 78,974,028 (GRCm39)	L481P	probably benign	Het
Fbxw7	A	T	3: 84,883,544 (GRCm39)	T573S	probably benign	Het
Fcgbp	C	A	7: 27,791,272 (GRCm39)	Y844*	probably null	Het
Fcrl2	C	A	3: 87,169,501 (GRCm39)	V13F	possibly damaging	Het
Gbx2	T	G	1: 89,858,375 (GRCm39)	S35R	probably benign	Het
H2-M9	A	G	17: 36,953,049 (GRCm39)	L86S	probably benign	Het
Hebp1	C	T	6: 135,114,990 (GRCm39)	G157D	probably benign	Het
Igf2bp3	C	A	6: 49,064,338 (GRCm39)	V560L	probably benign	Het
Igsf10	A	G	3: 59,238,285 (GRCm39)	I632T	probably damaging	Het
Kcnab2	A	T	4: 152,520,326 (GRCm39)	S5T	possibly damaging	Het
Kcnh5	T	C	12: 75,054,439 (GRCm39)	S502G	probably benign	Het
Lpcat2	T	A	8: 93,602,212 (GRCm39)	Y224*	probably null	Het
Mcrip2	A	G	17: 26,087,499 (GRCm39)	V24A	probably damaging	Het
Mttp	T	C	3: 137,814,842 (GRCm39)	K493E	possibly damaging	Het
Myl7	A	G	11: 5,847,137 (GRCm39)	S139P	possibly damaging	Het
Npepps	C	T	11: 97,133,478 (GRCm39)	R268H	probably damaging	Het
Oas1c	C	T	5: 120,943,478 (GRCm39)	W18*	probably null	Het
Or10ak7	G	T	4: 118,791,316 (GRCm39)	T241N	probably damaging	Het
P4ha3	T	C	7: 99,968,112 (GRCm39)		probably benign	Het
Pate14	G	T	9: 36,549,146 (GRCm39)	T38K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pkhd1l1	T	A	15: 44,376,304 (GRCm39)	W989R	probably damaging	Het
Podxl	A	G	6: 31,505,384 (GRCm39)		probably benign	Het
Pot1b	T	C	17: 56,007,009 (GRCm39)	Y36C	probably damaging	Het
Ppme1	A	T	7: 99,987,647 (GRCm39)	I103K	possibly damaging	Het
Ppp1r12a	T	C	10: 108,034,779 (GRCm39)	I108T	probably damaging	Het
Prep	T	C	10: 45,002,126 (GRCm39)	V427A	probably benign	Het
Prkce	A	G	17: 86,803,454 (GRCm39)	D451G	possibly damaging	Het
Prrc2c	A	G	1: 162,534,104 (GRCm39)		probably benign	Het
Ramacl	A	T	13: 67,056,277 (GRCm39)		probably benign	Het
Rrm2	A	G	12: 24,758,440 (GRCm39)	N32S	probably damaging	Het
Sema6a	A	G	18: 47,382,291 (GRCm39)	L752P	probably damaging	Het
Sik3	T	A	9: 46,107,143 (GRCm39)	I429N	possibly damaging	Het
Slc22a29	A	G	19: 8,147,354 (GRCm39)	L336P	probably benign	Het
Stk32a	A	T	18: 43,445,057 (GRCm39)	M284L	probably benign	Het
Syde2	T	C	3: 145,694,934 (GRCm39)		probably benign	Het
Tcta	G	A	9: 108,182,531 (GRCm39)	S91F	possibly damaging	Het
Traf3ip2	A	T	10: 39,530,406 (GRCm39)	T517S	probably damaging	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r66	A	G	7: 10,008,737 (GRCm39)	S99P	probably damaging	Het
Vmn2r8	G	A	5: 108,950,091 (GRCm39)	T252M	probably benign	Het
Wdr27	A	T	17: 15,130,372 (GRCm39)		probably benign	Het
Yipf1	A	G	4: 107,193,347 (GRCm39)	T78A	probably damaging	Het
Zfp735	A	T	11: 73,601,755 (GRCm39)	Y233F	probably benign	Het

Other mutations in Pramel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Pramel1	APN	4	143,124,126 (GRCm39)	missense	probably damaging	1.00
IGL01363:Pramel1	APN	4	143,123,955 (GRCm39)	missense	probably benign	0.00
IGL01713:Pramel1	APN	4	143,123,652 (GRCm39)	missense	probably benign	0.01
IGL02334:Pramel1	APN	4	143,124,096 (GRCm39)	missense	probably damaging	0.98
P0045:Pramel1	UTSW	4	143,125,092 (GRCm39)	nonsense	probably null
PIT4431001:Pramel1	UTSW	4	143,124,960 (GRCm39)	missense	possibly damaging	0.61
R0136:Pramel1	UTSW	4	143,124,016 (GRCm39)	missense	probably damaging	1.00
R0544:Pramel1	UTSW	4	143,124,175 (GRCm39)	missense	possibly damaging	0.94
R0612:Pramel1	UTSW	4	143,124,101 (GRCm39)	missense	probably damaging	0.99
R1700:Pramel1	UTSW	4	143,124,999 (GRCm39)	missense	probably damaging	1.00
R2425:Pramel1	UTSW	4	143,125,036 (GRCm39)	missense	probably damaging	1.00
R2927:Pramel1	UTSW	4	143,125,388 (GRCm39)	missense	probably benign
R4012:Pramel1	UTSW	4	143,123,260 (GRCm39)	missense	possibly damaging	0.48
R5253:Pramel1	UTSW	4	143,125,156 (GRCm39)	missense	probably benign	0.03
R5388:Pramel1	UTSW	4	143,123,954 (GRCm39)	missense	probably benign	0.00
R6457:Pramel1	UTSW	4	143,123,275 (GRCm39)	missense	probably damaging	1.00
R7052:Pramel1	UTSW	4	143,123,074 (GRCm39)	missense	probably damaging	1.00
R7543:Pramel1	UTSW	4	143,124,993 (GRCm39)	missense	probably damaging	0.99
R7964:Pramel1	UTSW	4	143,123,810 (GRCm39)	missense	probably benign	0.03
R8532:Pramel1	UTSW	4	143,125,125 (GRCm39)	missense	probably benign	0.04
R8977:Pramel1	UTSW	4	143,123,961 (GRCm39)	missense	probably benign	0.08
R9264:Pramel1	UTSW	4	143,125,099 (GRCm39)	missense	probably damaging	1.00
R9284:Pramel1	UTSW	4	143,123,769 (GRCm39)	missense	probably benign	0.43
R9466:Pramel1	UTSW	4	143,123,799 (GRCm39)	missense	probably benign	0.10
R9769:Pramel1	UTSW	4	143,125,110 (GRCm39)	missense	possibly damaging	0.67

Posted On

2015-12-18