Mutagenetix > Incidental Mutation

Incidental Mutation 'R7708:AW551984'

594406

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

045709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39505051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 480 (F480L)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722]

AlphaFold

Q8BGF0

Predicted Effect

probably benign
Transcript: ENSMUST00000042485
AA Change: F480L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: F480L

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119722
AA Change: F480L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: F480L

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147753

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	G	3: 59,772,756 (GRCm39)	S87G	probably benign	Het
Adam24	A	G	8: 41,133,558 (GRCm39)	H342R	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asap1	T	C	15: 64,024,721 (GRCm39)	Y315C	probably damaging	Het
Atp10b	C	A	11: 43,092,970 (GRCm39)	T435K	probably damaging	Het
Bspry	G	T	4: 62,414,337 (GRCm39)	C310F	probably benign	Het
Camk2d	A	T	3: 126,391,089 (GRCm39)	M1L	probably benign	Het
Clock	T	A	5: 76,414,256 (GRCm39)	S19C	probably benign	Het
Cxxc1	G	T	18: 74,349,314 (GRCm39)		probably benign	Het
Efcab3	G	C	11: 104,855,397 (GRCm39)	D3816H	unknown	Het
Ercc6l2	T	A	13: 63,989,328 (GRCm39)	C176*	probably null	Het
Fkbp5	A	G	17: 28,657,071 (GRCm39)	F49L	probably benign	Het
Gm15130	T	A	2: 110,974,962 (GRCm39)	D67V		Het
Gpatch2	A	G	1: 186,964,963 (GRCm39)	I297V	probably benign	Het
Gpr135	T	G	12: 72,116,733 (GRCm39)	I345L	probably benign	Het
Gpr89	G	A	3: 96,787,941 (GRCm39)	T271I	possibly damaging	Het
Hip1r	T	A	5: 124,135,532 (GRCm39)	S503T	possibly damaging	Het
Hivep1	T	A	13: 42,317,753 (GRCm39)	C2076*	probably null	Het
Hoxa2	A	G	6: 52,141,542 (GRCm39)	V28A	probably damaging	Het
Inf2	T	C	12: 112,573,991 (GRCm39)	V765A	unknown	Het
Krt87	T	C	15: 101,385,813 (GRCm39)	M261V	probably benign	Het
Mtmr7	A	G	8: 41,043,554 (GRCm39)	Y166H	probably damaging	Het
Nuak2	T	C	1: 132,252,770 (GRCm39)	M108T	possibly damaging	Het
Or4f52	T	C	2: 111,061,863 (GRCm39)	I92V	probably damaging	Het
Or52e19	T	C	7: 102,959,768 (GRCm39)	L280P	probably damaging	Het
Or5p80	C	T	7: 108,230,048 (GRCm39)	P283L	probably damaging	Het
Or6k6	A	G	1: 173,945,300 (GRCm39)	M94T	probably damaging	Het
Or8b1c	A	T	9: 38,384,681 (GRCm39)	T213S	probably damaging	Het
Or8s16	A	T	15: 98,211,029 (GRCm39)	M134K	probably damaging	Het
Orm3	A	T	4: 63,276,050 (GRCm39)	E154V	probably damaging	Het
Pcdhga2	T	A	18: 37,804,496 (GRCm39)	I780N	possibly damaging	Het
Phf21a	T	C	2: 92,157,511 (GRCm39)		probably null	Het
Polh	G	T	17: 46,483,626 (GRCm39)	D546E	probably benign	Het
Ptprr	A	G	10: 115,998,502 (GRCm39)	D204G	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rpl7l1	A	G	17: 47,090,271 (GRCm39)	V121A	possibly damaging	Het
Rreb1	A	G	13: 38,113,546 (GRCm39)	T302A	probably benign	Het
Scn3a	C	T	2: 65,313,512 (GRCm39)	V1134I	possibly damaging	Het
Slc10a6	C	T	5: 103,777,128 (GRCm39)		probably benign	Het
Tmprss11f	C	T	5: 86,672,028 (GRCm39)	G388D	probably damaging	Het
Tnf	A	C	17: 35,419,134 (GRCm39)	V232G	possibly damaging	Het
Trappc13	C	T	13: 104,283,845 (GRCm39)	G302D	probably benign	Het
Trbj1-7	T	G	6: 41,512,617 (GRCm39)	Y14*	probably null	Het
Vmn1r217	T	C	13: 23,298,269 (GRCm39)	H211R	probably benign	Het
Vmn2r69	T	A	7: 85,061,755 (GRCm39)	H73L	possibly damaging	Het
Zfp827	T	C	8: 79,902,591 (GRCm39)	L835S	probably damaging	Het

Other mutations in AW551984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:AW551984	APN	9	39,504,145 (GRCm39)	missense	probably benign	0.16
IGL00869:AW551984	APN	9	39,504,730 (GRCm39)	splice site	probably benign
IGL01411:AW551984	APN	9	39,505,087 (GRCm39)	missense	possibly damaging	0.69
IGL01744:AW551984	APN	9	39,502,568 (GRCm39)	missense	probably benign	0.01
IGL02102:AW551984	APN	9	39,500,987 (GRCm39)	missense	probably damaging	1.00
IGL02149:AW551984	APN	9	39,504,220 (GRCm39)	missense	probably benign	0.06
IGL02151:AW551984	APN	9	39,504,241 (GRCm39)	missense	probably benign	0.35
IGL02154:AW551984	APN	9	39,500,398 (GRCm39)	missense	possibly damaging	0.93
IGL02158:AW551984	APN	9	39,510,621 (GRCm39)	missense	probably null	0.99
IGL02574:AW551984	APN	9	39,500,382 (GRCm39)	missense	possibly damaging	0.91
IGL02754:AW551984	APN	9	39,504,624 (GRCm39)	critical splice donor site	probably null
IGL02754:AW551984	APN	9	39,507,922 (GRCm39)	nonsense	probably null
IGL02838:AW551984	APN	9	39,505,939 (GRCm39)	missense	probably damaging	1.00
IGL03240:AW551984	APN	9	39,500,418 (GRCm39)	missense	probably benign	0.00
IGL03328:AW551984	APN	9	39,508,412 (GRCm39)	missense	probably damaging	1.00
IGL03374:AW551984	APN	9	39,511,062 (GRCm39)	missense	possibly damaging	0.52
PIT4260001:AW551984	UTSW	9	39,504,275 (GRCm39)	missense	probably benign	0.08
R0141:AW551984	UTSW	9	39,501,940 (GRCm39)	missense	probably damaging	1.00
R0269:AW551984	UTSW	9	39,511,246 (GRCm39)	missense	probably damaging	1.00
R0365:AW551984	UTSW	9	39,510,617 (GRCm39)	missense	probably benign	0.14
R0453:AW551984	UTSW	9	39,511,937 (GRCm39)	missense	probably damaging	1.00
R0481:AW551984	UTSW	9	39,511,912 (GRCm39)	missense	probably null	1.00
R1005:AW551984	UTSW	9	39,505,029 (GRCm39)	nonsense	probably null
R1585:AW551984	UTSW	9	39,510,632 (GRCm39)	nonsense	probably null
R2177:AW551984	UTSW	9	39,511,111 (GRCm39)	missense	probably benign
R3117:AW551984	UTSW	9	39,504,656 (GRCm39)	missense	probably benign	0.08
R3119:AW551984	UTSW	9	39,504,656 (GRCm39)	missense	probably benign	0.08
R3162:AW551984	UTSW	9	39,504,325 (GRCm39)	missense	probably damaging	1.00
R3162:AW551984	UTSW	9	39,504,325 (GRCm39)	missense	probably damaging	1.00
R3836:AW551984	UTSW	9	39,509,204 (GRCm39)	unclassified	probably benign
R3837:AW551984	UTSW	9	39,509,204 (GRCm39)	unclassified	probably benign
R3839:AW551984	UTSW	9	39,509,204 (GRCm39)	unclassified	probably benign
R4299:AW551984	UTSW	9	39,504,275 (GRCm39)	missense	probably benign	0.08
R4422:AW551984	UTSW	9	39,511,373 (GRCm39)	missense	probably null	0.00
R4713:AW551984	UTSW	9	39,508,449 (GRCm39)	missense	probably benign	0.13
R4905:AW551984	UTSW	9	39,508,454 (GRCm39)	missense	probably damaging	0.99
R4966:AW551984	UTSW	9	39,508,472 (GRCm39)	missense	possibly damaging	0.92
R5022:AW551984	UTSW	9	39,509,261 (GRCm39)	missense	probably benign	0.00
R5041:AW551984	UTSW	9	39,511,894 (GRCm39)	missense	probably damaging	1.00
R5342:AW551984	UTSW	9	39,505,847 (GRCm39)	missense	probably damaging	1.00
R5383:AW551984	UTSW	9	39,501,994 (GRCm39)	missense	probably benign
R5443:AW551984	UTSW	9	39,509,325 (GRCm39)	missense	possibly damaging	0.94
R5532:AW551984	UTSW	9	39,508,481 (GRCm39)	missense	probably damaging	1.00
R5536:AW551984	UTSW	9	39,504,169 (GRCm39)	missense	probably benign	0.04
R5586:AW551984	UTSW	9	39,502,559 (GRCm39)	missense	probably benign	0.01
R5601:AW551984	UTSW	9	39,502,563 (GRCm39)	missense	possibly damaging	0.87
R5618:AW551984	UTSW	9	39,502,000 (GRCm39)	missense	probably damaging	1.00
R5701:AW551984	UTSW	9	39,504,118 (GRCm39)	missense	probably benign	0.01
R6122:AW551984	UTSW	9	39,505,051 (GRCm39)	missense	probably benign	0.00
R6142:AW551984	UTSW	9	39,508,410 (GRCm39)	missense	probably benign	0.00
R6272:AW551984	UTSW	9	39,509,333 (GRCm39)	missense	probably benign	0.06
R6429:AW551984	UTSW	9	39,511,910 (GRCm39)	missense	probably damaging	1.00
R6659:AW551984	UTSW	9	39,500,395 (GRCm39)	missense	probably benign	0.00
R6670:AW551984	UTSW	9	39,504,292 (GRCm39)	missense	probably damaging	1.00
R6791:AW551984	UTSW	9	39,511,955 (GRCm39)	missense	probably damaging	1.00
R7000:AW551984	UTSW	9	39,512,085 (GRCm39)	missense	probably benign	0.11
R7077:AW551984	UTSW	9	39,502,723 (GRCm39)	missense	probably benign
R7083:AW551984	UTSW	9	39,508,943 (GRCm39)	missense	probably damaging	1.00
R7352:AW551984	UTSW	9	39,504,221 (GRCm39)	missense	probably benign
R7475:AW551984	UTSW	9	39,509,236 (GRCm39)	missense	probably damaging	1.00
R7534:AW551984	UTSW	9	39,502,777 (GRCm39)	missense	probably benign	0.03
R7542:AW551984	UTSW	9	39,505,927 (GRCm39)	missense	possibly damaging	0.95
R7729:AW551984	UTSW	9	39,511,071 (GRCm39)	missense	possibly damaging	0.89
R7955:AW551984	UTSW	9	39,507,960 (GRCm39)	missense	probably damaging	1.00
R8122:AW551984	UTSW	9	39,510,665 (GRCm39)	missense	probably damaging	1.00
R8358:AW551984	UTSW	9	39,510,651 (GRCm39)	missense	probably damaging	0.99
R8402:AW551984	UTSW	9	39,508,949 (GRCm39)	missense	probably damaging	1.00
R8683:AW551984	UTSW	9	39,511,005 (GRCm39)	missense	possibly damaging	0.86
R8810:AW551984	UTSW	9	39,511,307 (GRCm39)	missense	probably damaging	1.00
R8857:AW551984	UTSW	9	39,511,831 (GRCm39)	missense	probably damaging	1.00
R8871:AW551984	UTSW	9	39,500,998 (GRCm39)	nonsense	probably null
R9019:AW551984	UTSW	9	39,508,973 (GRCm39)	nonsense	probably null
Z1088:AW551984	UTSW	9	39,501,899 (GRCm39)	nonsense	probably null
ZE80:AW551984	UTSW	9	39,504,963 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATGTGTTCAGGAGAGCAG -3'
(R):5'- AAGGCTCGTGAACTCTATATACAG -3'

Sequencing Primer
(F):5'- CCTGGACAGCTGTAGTTAGCAAATAC -3'
(R):5'- CTGAGGCGTTCTTTACAG -3'

Posted On

2019-11-12