Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Sh2d5'

484223

Institutional Source

Beutler Lab

Gene Symbol

Sh2d5

Ensembl Gene

ENSMUSG00000045349

Gene Name

SH2 domain containing 5

Synonyms

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137977722-137988279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137982873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 85 (M85K)

Ref Sequence

ENSEMBL: ENSMUSP00000101450 (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 damaging
Transcript: ENSMUST00000105823
AA Change: M85K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349
AA Change: M85K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105824
AA Change: M85K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349
AA Change: M85K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154421

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	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
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
R7828:Sh2d5	UTSW	4	137,984,108 (GRCm39)	missense	probably benign	0.09
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'- ACTTTCGTGTCTGCAGCAGG -3'
(R):5'- GTCCCAGGAGAGAAAAGTCC -3'

Sequencing Primer
(F):5'- TGTCTGCAGCAGGCCTGG -3'
(R):5'- GAGAGAAAAGTCCTGTCTAGTTTTGC -3'

Posted On

2017-07-14