Mutagenetix > Incidental Mutation

Incidental Mutation 'R1275:Rassf7'

150865

Institutional Source

Beutler Lab

Gene Symbol

Rassf7

Ensembl Gene

ENSMUSG00000038618

Gene Name

Ras association (RalGDS/AF-6) domain family (N-terminal) member 7

Synonyms

2400009B11Rik

MMRRC Submission

039341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R1275 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

140795773-140798571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140797060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 91 (L91Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000046890] [ENSMUST00000127613] [ENSMUST00000133763] [ENSMUST00000141804] [ENSMUST00000148975] [ENSMUST00000153081] [ENSMUST00000209500] [ENSMUST00000210993] [ENSMUST00000170841]

AlphaFold

Q9DD19

Predicted Effect

probably benign
Transcript: ENSMUST00000026573

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500

Domain	Start	End	E-Value	Type
coiled coil region	114	170	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:LTD	375	482	1.3e-13	PFAM
low complexity region	567	578	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000046890
AA Change: L91Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038444
Gene: ENSMUSG00000038618
AA Change: L91Q

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	215	N/A	INTRINSIC
low complexity region	217	244	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083617

Predicted Effect

probably benign
Transcript: ENSMUST00000127613

Predicted Effect

probably damaging
Transcript: ENSMUST00000133763
AA Change: L91Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118313
Gene: ENSMUSG00000038618
AA Change: L91Q

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	200	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141804
AA Change: L91Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115948
Gene: ENSMUSG00000038618
AA Change: L91Q

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	215	N/A	INTRINSIC
low complexity region	217	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148975

SMART Domains

Protein: ENSMUSP00000118078
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
Blast:RA	6	35	5e-13	BLAST
PDB:2CS4\|A	7	35	2e-11	PDB
low complexity region	36	47	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000153081
AA Change: L91Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123128
Gene: ENSMUSG00000038618
AA Change: L91Q

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	199	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209500
AA Change: L91Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210993
AA Change: L91Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149548

Predicted Effect

probably benign
Transcript: ENSMUST00000170841

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500

Domain	Start	End	E-Value	Type
coiled coil region	124	180	N/A	INTRINSIC
low complexity region	296	308	N/A	INTRINSIC
SCOP:d1ifra_	385	487	1e-22	SMART
low complexity region	577	588	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdhr18	T	C	14: 13,896,949 (GRCm38)	Y142C	probably damaging	Het
Clstn2	C	T	9: 97,339,483 (GRCm39)	V793I	probably benign	Het
Coro1a	C	T	7: 126,299,755 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Efcab14	T	G	4: 115,613,670 (GRCm39)	L206R	probably damaging	Het
Ehmt1	A	G	2: 24,777,007 (GRCm39)		probably null	Het
Fosl2	C	T	5: 32,307,798 (GRCm39)	R130W	probably damaging	Het
Gfral	A	G	9: 76,104,314 (GRCm39)	C233R	probably damaging	Het
Ino80	T	C	2: 119,257,536 (GRCm39)	T765A	probably benign	Het
Mindy3	A	T	2: 12,400,984 (GRCm39)		probably null	Het
Myo15b	CGGAGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAGGAG	11: 115,774,318 (GRCm39)		probably benign	Het
Nup50l	T	C	6: 96,142,099 (GRCm39)	E315G	probably benign	Het
Osbpl11	T	A	16: 33,006,220 (GRCm39)	M16K	probably benign	Het
Shld1	T	C	2: 132,534,015 (GRCm39)	S48P	probably benign	Het
Unc13b	A	G	4: 43,235,366 (GRCm39)	K3318R	probably damaging	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp930	A	G	8: 69,680,631 (GRCm39)	K108E	possibly damaging	Het

Other mutations in Rassf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02098:Rassf7	APN	7	140,798,203 (GRCm39)	missense	possibly damaging	0.95
R0883:Rassf7	UTSW	7	140,796,903 (GRCm39)	splice site	probably benign
R1616:Rassf7	UTSW	7	140,796,645 (GRCm39)	missense	probably damaging	1.00
R5546:Rassf7	UTSW	7	140,796,973 (GRCm39)	splice site	probably null
R5597:Rassf7	UTSW	7	140,797,024 (GRCm39)	missense	probably damaging	1.00
R5663:Rassf7	UTSW	7	140,797,003 (GRCm39)	missense	probably damaging	1.00
R6250:Rassf7	UTSW	7	140,797,156 (GRCm39)	missense	probably damaging	0.98
R6806:Rassf7	UTSW	7	140,796,722 (GRCm39)	missense	probably damaging	1.00
R6817:Rassf7	UTSW	7	140,797,360 (GRCm39)	missense	probably damaging	1.00
R6962:Rassf7	UTSW	7	140,797,503 (GRCm39)	missense	possibly damaging	0.86
R7054:Rassf7	UTSW	7	140,797,556 (GRCm39)	missense	probably benign	0.01
R7562:Rassf7	UTSW	7	140,797,101 (GRCm39)	nonsense	probably null
R7682:Rassf7	UTSW	7	140,797,847 (GRCm39)	missense	probably damaging	1.00
R9308:Rassf7	UTSW	7	140,798,063 (GRCm39)	missense	probably benign
R9508:Rassf7	UTSW	7	140,796,924 (GRCm39)	nonsense	probably null
X0026:Rassf7	UTSW	7	140,798,045 (GRCm39)	nonsense	probably null
Z1088:Rassf7	UTSW	7	140,797,058 (GRCm39)	missense	probably damaging	1.00
Z1177:Rassf7	UTSW	7	140,798,198 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GCTGTGGTCTAACAGCATCTTCCC -3'
(R):5'- AGGTCTGCAAAGCCGTCTGGTATG -3'

Sequencing Primer
(F):5'- GATTGCTCTATTCTTCAAGCCAG -3'
(R):5'- CCGTCTGGTATGGGTCCTAC -3'

Posted On

2014-01-29