Mutagenetix > Incidental Mutation

Incidental Mutation 'R7828:Sh2d5'

602429

Institutional Source

Beutler Lab

Gene Symbol

Sh2d5

Ensembl Gene

ENSMUSG00000045349

Gene Name

SH2 domain containing 5

Synonyms

MMRRC Submission

045882-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7828 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137977722-137988279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137984108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 85 (P85T)

Ref Sequence

ENSEMBL: ENSMUSP00000119052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105818] [ENSMUST00000105823] [ENSMUST00000105824] [ENSMUST00000124239]

AlphaFold

Q8JZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000105818

SMART Domains

Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758

Domain	Start	End	E-Value	Type
KISc	1	151	1.46e-13	SMART
coiled coil region	208	278	N/A	INTRINSIC
low complexity region	532	545	N/A	INTRINSIC
coiled coil region	615	661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105823
AA Change: P159T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349
AA Change: P159T

Domain	Start	End	E-Value	Type
Pfam:PID	27	149	1e-6	PFAM
SH2	300	384	9.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105824
AA Change: P159T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349
AA Change: P159T

Domain	Start	End	E-Value	Type
SCOP:d1ddma_	24	146	8e-18	SMART
Blast:PTB	28	146	6e-6	BLAST
SH2	300	384	9.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124239
AA Change: P85T

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,254,904 (GRCm39)	T869A	probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arid1b	C	A	17: 5,147,943 (GRCm39)	P615Q	probably damaging	Het
Asb16	C	A	11: 102,168,753 (GRCm39)	Q410K	probably benign	Het
Ash2l	T	C	8: 26,313,214 (GRCm39)	E335G	possibly damaging	Het
AU041133	C	T	10: 81,987,054 (GRCm39)	H236Y	probably damaging	Het
Bhmt	T	A	13: 93,754,156 (GRCm39)	Y351F	possibly damaging	Het
Birc6	T	C	17: 74,886,501 (GRCm39)	S610P	probably damaging	Het
Cab39l	T	C	14: 59,737,159 (GRCm39)		probably null	Het
Cdc7	A	T	5: 107,120,816 (GRCm39)	Q146L	possibly damaging	Het
Cdk18	T	C	1: 132,044,642 (GRCm39)	H328R	possibly damaging	Het
Cdsn	T	C	17: 35,865,878 (GRCm39)	S136P	unknown	Het
Ces3b	T	A	8: 105,813,228 (GRCm39)	L203Q	probably damaging	Het
Cgn	A	G	3: 94,676,489 (GRCm39)	V840A	probably damaging	Het
Ctse	T	C	1: 131,590,491 (GRCm39)	L71P	probably damaging	Het
Ears2	G	T	7: 121,647,563 (GRCm39)	S240R	probably benign	Het
Edem3	A	G	1: 151,687,386 (GRCm39)	I756V	possibly damaging	Het
Epas1	T	C	17: 87,135,127 (GRCm39)	Y587H	probably benign	Het
Fcamr	G	T	1: 130,739,443 (GRCm39)	A248S	probably damaging	Het
Gm14496	G	A	2: 181,633,171 (GRCm39)	W51*	probably null	Het
Hfm1	A	T	5: 107,029,657 (GRCm39)		probably null	Het
Hhip	T	C	8: 80,724,837 (GRCm39)	I312V	probably benign	Het
Hmcn2	C	A	2: 31,295,887 (GRCm39)	N2658K	possibly damaging	Het
Iars1	T	A	13: 49,878,748 (GRCm39)	M948K	probably benign	Het
Il27ra	A	G	8: 84,758,187 (GRCm39)	L521S	probably damaging	Het
Itpr1	A	G	6: 108,459,892 (GRCm39)	D2062G	probably damaging	Het
Jag2	G	T	12: 112,876,800 (GRCm39)	R784S	probably benign	Het
Maea	T	A	5: 33,517,722 (GRCm39)	D87E	probably benign	Het
Man2a2	A	G	7: 80,016,674 (GRCm39)	I380T	probably damaging	Het
Mprip	G	T	11: 59,627,915 (GRCm39)	G253W	probably damaging	Het
Naglu	G	A	11: 100,967,436 (GRCm39)	R462H	probably damaging	Het
Nrxn1	T	A	17: 90,366,979 (GRCm39)	I342F	probably damaging	Het
Oosp1	C	A	19: 11,668,369 (GRCm39)	V5L	probably benign	Het
Or10q3	A	T	19: 11,848,169 (GRCm39)	M137K	probably damaging	Het
Or5b113	G	A	19: 13,342,510 (GRCm39)	V173I	probably benign	Het
Or6c74	A	G	10: 129,869,756 (GRCm39)	D87G	probably damaging	Het
Or7g12	T	C	9: 18,900,216 (GRCm39)	S311P	probably benign	Het
Pbrm1	T	C	14: 30,752,848 (GRCm39)	M95T	probably damaging	Het
Pcdh17	C	G	14: 84,770,425 (GRCm39)	R968G	probably damaging	Het
Pcdhb7	T	G	18: 37,476,915 (GRCm39)	S684A	probably damaging	Het
Polr1b	T	G	2: 128,947,200 (GRCm39)	I175R	probably damaging	Het
Ppp3ca	A	G	3: 136,503,535 (GRCm39)	D36G	probably damaging	Het
Prr14l	G	A	5: 33,001,735 (GRCm39)		probably benign	Het
Rcn2	A	T	9: 55,960,266 (GRCm39)	I178F	probably benign	Het
Sbspon	T	G	1: 15,930,543 (GRCm39)	K148Q	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setd7	T	A	3: 51,444,078 (GRCm39)		probably null	Het
Slc12a1	T	A	2: 125,008,602 (GRCm39)	V204D	possibly damaging	Het
Slc2a8	G	A	2: 32,870,080 (GRCm39)	R154*	probably null	Het
Slc36a3	C	T	11: 55,042,024 (GRCm39)	G42S	probably benign	Het
Spink5	A	G	18: 44,143,296 (GRCm39)	K751R	probably benign	Het
Sult2a5	T	A	7: 13,362,768 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,852,306 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,805,381 (GRCm39)	S153P	probably damaging	Het
Ubap2	A	T	4: 41,221,615 (GRCm39)	L228Q	probably benign	Het
Upk3b	G	A	5: 136,068,993 (GRCm39)	G121S	possibly damaging	Het
Usp1	T	A	4: 98,820,544 (GRCm39)	S456R	probably damaging	Het
Usp28	A	T	9: 48,915,202 (GRCm39)	N126Y	possibly damaging	Het
Wdfy4	C	T	14: 32,710,878 (GRCm39)	V2411M	possibly damaging	Het
Zfp595	C	T	13: 67,465,769 (GRCm39)	E165K	probably damaging	Het

Other mutations in Sh2d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Sh2d5	APN	4	137,985,553 (GRCm39)	missense	probably benign	0.19
IGL02715:Sh2d5	APN	4	137,984,018 (GRCm39)	splice site	probably benign
R0621:Sh2d5	UTSW	4	137,985,629 (GRCm39)	missense	probably benign	0.12
R0622:Sh2d5	UTSW	4	137,986,539 (GRCm39)	missense	probably damaging	0.97
R4605:Sh2d5	UTSW	4	137,984,566 (GRCm39)	nonsense	probably null
R4828:Sh2d5	UTSW	4	137,985,566 (GRCm39)	missense	probably damaging	1.00
R5372:Sh2d5	UTSW	4	137,982,010 (GRCm39)	missense	possibly damaging	0.95
R6053:Sh2d5	UTSW	4	137,982,873 (GRCm39)	missense	probably damaging	0.96
R6441:Sh2d5	UTSW	4	137,986,393 (GRCm39)	missense	possibly damaging	0.95
R7336:Sh2d5	UTSW	4	137,984,150 (GRCm39)	missense	probably benign
R7621:Sh2d5	UTSW	4	137,984,150 (GRCm39)	missense	probably benign	0.01
R7642:Sh2d5	UTSW	4	137,986,467 (GRCm39)	missense	probably benign	0.05
R9390:Sh2d5	UTSW	4	137,985,481 (GRCm39)	missense	probably benign
R9536:Sh2d5	UTSW	4	137,986,420 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CGAAGTAGGAGTTTCCCCAG -3'
(R):5'- ATACCCCATTACTGCCCAGGAG -3'

Sequencing Primer
(F):5'- TTAAGGAGCCATTTGTAGCCCCAG -3'
(R):5'- ATTACTGCCCAGGAGCCCTTC -3'

Posted On

2019-12-03