Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Raly'

692586

Institutional Source

Beutler Lab

Gene Symbol

Raly

Ensembl Gene

ENSMUSG00000027593

Gene Name

hnRNP-associated with lethal yellow

Synonyms

Merc

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154633016-154709181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154703785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 119 (S119T)

Ref Sequence

ENSEMBL: ENSMUSP00000105323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029120] [ENSMUST00000058089] [ENSMUST00000109701] [ENSMUST00000116389] [ENSMUST00000125872] [ENSMUST00000129137] [ENSMUST00000137333] [ENSMUST00000140713]

AlphaFold

Q64012

Predicted Effect

probably damaging
Transcript: ENSMUST00000029120
AA Change: S135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029120
Gene: ENSMUSG00000027593
AA Change: S135T

Domain	Start	End	E-Value	Type
RRM	22	88	4.01e-14	SMART
low complexity region	109	123	N/A	INTRINSIC
low complexity region	133	160	N/A	INTRINSIC
low complexity region	227	259	N/A	INTRINSIC
low complexity region	287	301	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058089
AA Change: S119T

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

SMART Domains

Protein: ENSMUSP00000058105
Gene: ENSMUSG00000027593
AA Change: S119T

Domain	Start	End	E-Value	Type
RRM	22	88	4.01e-14	SMART
low complexity region	117	144	N/A	INTRINSIC
low complexity region	211	243	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109701
AA Change: S119T

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

SMART Domains

Protein: ENSMUSP00000105323
Gene: ENSMUSG00000027593
AA Change: S119T

Domain	Start	End	E-Value	Type
RRM	22	88	4.01e-14	SMART
low complexity region	117	144	N/A	INTRINSIC
low complexity region	211	243	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116389
AA Change: S135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112090
Gene: ENSMUSG00000027593
AA Change: S135T

Domain	Start	End	E-Value	Type
RRM	22	88	4.01e-14	SMART
low complexity region	109	123	N/A	INTRINSIC
low complexity region	133	160	N/A	INTRINSIC
low complexity region	227	259	N/A	INTRINSIC
low complexity region	287	301	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125872
AA Change: S119T

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

SMART Domains

Protein: ENSMUSP00000119108
Gene: ENSMUSG00000027593
AA Change: S119T

Domain	Start	End	E-Value	Type
RRM	22	88	1.6e-16	SMART
low complexity region	120	140	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129137
AA Change: S119T

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

SMART Domains

Protein: ENSMUSP00000114185
Gene: ENSMUSG00000027593
AA Change: S119T

Domain	Start	End	E-Value	Type
RRM	22	88	1.6e-16	SMART
low complexity region	117	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137333

SMART Domains

Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	70	2.53e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140713
AA Change: S135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119126
Gene: ENSMUSG00000027593
AA Change: S135T

Domain	Start	End	E-Value	Type
RRM	22	88	4.01e-14	SMART
low complexity region	109	123	N/A	INTRINSIC
low complexity region	133	160	N/A	INTRINSIC
low complexity region	227	259	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trap allele are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Agfg1	T	G	1: 82,872,216 (GRCm39)	F516L	possibly damaging	Het
Akap5	T	A	12: 76,374,592 (GRCm39)	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,342,545 (GRCm39)	V535I	probably benign	Het
Atg3	T	C	16: 45,006,564 (GRCm39)	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,588,534 (GRCm39)	P168L	probably damaging	Het
Ccr7	A	G	11: 99,036,086 (GRCm39)	Y279H	probably damaging	Het
Cfap210	G	T	2: 69,612,103 (GRCm39)	S175*	probably null	Het
Clint1	A	G	11: 45,781,562 (GRCm39)	T211A	probably damaging	Het
Dchs2	T	G	3: 83,176,662 (GRCm39)	D873E	probably benign	Het
Dhx30	A	G	9: 109,926,164 (GRCm39)	L149P	probably damaging	Het
Dnah1	T	C	14: 31,033,581 (GRCm39)		probably benign	Het
Dtx1	A	G	5: 120,848,356 (GRCm39)	V8A	probably benign	Het
Enpp3	T	A	10: 24,702,078 (GRCm39)	K91N	possibly damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,518,616 (GRCm39)	E308G	probably damaging	Het
Foxb2	T	C	19: 16,850,758 (GRCm39)	K83E	unknown	Het
Git2	A	G	5: 114,887,621 (GRCm39)		probably null	Het
Gm10024	T	C	10: 77,547,339 (GRCm39)	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422 (GRCm39)	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Herc4	C	A	10: 63,126,300 (GRCm39)	L551I	probably benign	Het
Igfn1	T	A	1: 135,902,528 (GRCm39)	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Jag2	G	T	12: 112,877,279 (GRCm39)	Y697*	probably null	Het
Kif1c	T	C	11: 70,595,798 (GRCm39)	V168A	probably damaging	Het
Lipn	T	C	19: 34,046,041 (GRCm39)	W5R	probably damaging	Het
Mavs	G	A	2: 131,087,245 (GRCm39)	A248T	probably benign	Het
Megf10	G	A	18: 57,392,773 (GRCm39)	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023 (GRCm39)	H653R	probably benign	Het
Mrps9	T	G	1: 42,942,537 (GRCm39)	S332A	probably benign	Het
Muc5b	T	C	7: 141,423,070 (GRCm39)	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,800,451 (GRCm39)	T1002M	probably benign	Het
Nav3	T	A	10: 109,520,100 (GRCm39)	M2328L	probably benign	Het
Or5h18	T	C	16: 58,847,653 (GRCm39)	I206V	probably benign	Het
Or8b52	T	A	9: 38,577,106 (GRCm39)	E11D	probably benign	Het
Pawr	T	C	10: 108,169,140 (GRCm39)	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,608,090 (GRCm39)	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,624,905 (GRCm39)	D1250G	probably benign	Het
Ptprs	T	A	17: 56,742,853 (GRCm39)	M430L	possibly damaging	Het
Serpinb6a	A	T	13: 34,109,412 (GRCm39)	S128T	probably benign	Het
Sirt3	C	T	7: 140,449,362 (GRCm39)		probably benign	Het
Slc22a7	A	G	17: 46,748,029 (GRCm39)	F210L	probably damaging	Het
Speg	G	T	1: 75,364,444 (GRCm39)	S275I	probably damaging	Het
Stk32c	C	T	7: 138,768,141 (GRCm39)	D47N	unknown	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Sun2	T	C	15: 79,614,517 (GRCm39)	H295R	probably benign	Het
Syne1	T	C	10: 5,053,667 (GRCm39)	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,666,126 (GRCm39)	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943 (GRCm39)		probably benign	Het
Trim50	A	G	5: 135,382,537 (GRCm39)	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,801,154 (GRCm39)	V189A	probably benign	Het
Zfat	C	A	15: 68,058,918 (GRCm39)	A206S	probably damaging	Het

Other mutations in Raly

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01838:Raly	APN	2	154,701,590 (GRCm39)	splice site	probably benign
IGL02164:Raly	APN	2	154,701,849 (GRCm39)	nonsense	probably null
R0227:Raly	UTSW	2	154,707,841 (GRCm39)	missense	probably damaging	0.98
R1412:Raly	UTSW	2	154,699,315 (GRCm39)	missense	possibly damaging	0.95
R1416:Raly	UTSW	2	154,699,273 (GRCm39)	nonsense	probably null
R2247:Raly	UTSW	2	154,705,953 (GRCm39)	missense	possibly damaging	0.92
R4110:Raly	UTSW	2	154,699,378 (GRCm39)	nonsense	probably null
R4533:Raly	UTSW	2	154,707,853 (GRCm39)	missense	probably damaging	0.98
R4654:Raly	UTSW	2	154,699,376 (GRCm39)	missense	probably damaging	1.00
R4866:Raly	UTSW	2	154,703,816 (GRCm39)	missense	probably damaging	0.99
R5395:Raly	UTSW	2	154,705,927 (GRCm39)	splice site	probably null
R6254:Raly	UTSW	2	154,699,286 (GRCm39)	missense	probably damaging	1.00
R6887:Raly	UTSW	2	154,703,830 (GRCm39)	missense	probably damaging	0.99
R7069:Raly	UTSW	2	154,701,664 (GRCm39)	missense	possibly damaging	0.93
R7117:Raly	UTSW	2	154,699,432 (GRCm39)	missense	probably benign	0.35
R7289:Raly	UTSW	2	154,703,774 (GRCm39)	missense	probably damaging	1.00
R7311:Raly	UTSW	2	154,699,340 (GRCm39)	missense	probably damaging	1.00
R8900:Raly	UTSW	2	154,705,493 (GRCm39)	missense	probably damaging	1.00
R9546:Raly	UTSW	2	154,705,754 (GRCm39)	small deletion	probably benign
R9550:Raly	UTSW	2	154,705,754 (GRCm39)	small deletion	probably benign
R9781:Raly	UTSW	2	154,699,265 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCAGAAAGCCCTTTTCAC -3'
(R):5'- GTCTAGCTTAGGGGTTCTCGAC -3'

Sequencing Primer
(F):5'- TTCACACCAGGGCTTCTTGGAAG -3'
(R):5'- TTACATGAGTTCCAGGCCAG -3'

Posted On

2021-12-30