Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Shc4'

356625

Institutional Source

Beutler Lab

Gene Symbol

Shc4

Ensembl Gene

ENSMUSG00000035109

Gene Name

SHC (Src homology 2 domain containing) family, member 4

Synonyms

6230417E10Rik, 9930029B02Rik, LOC271849

MMRRC Submission

042028-MU

Accession Numbers

Essential gene?

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

Stock #

R4745 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

125469367-125566068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125491197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 447 (L447Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042246] [ENSMUST00000110477] [ENSMUST00000110480]

AlphaFold

Q6S5L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000042246
AA Change: L447Q

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109
AA Change: L447Q

Domain	Start	End	E-Value	Type
low complexity region	57	68	N/A	INTRINSIC
PTB	187	351	1.38e-34	SMART
SH2	520	599	4.69e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110477
AA Change: L161Q

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106103
Gene: ENSMUSG00000035109
AA Change: L161Q

Domain	Start	End	E-Value	Type
Pfam:PID	1	62	1.7e-19	PFAM
SH2	234	313	4.69e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110480
AA Change: L161Q

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106106
Gene: ENSMUSG00000035109
AA Change: L161Q

Domain	Start	End	E-Value	Type
Pfam:PID	1	62	1.7e-19	PFAM
SH2	234	313	4.69e-24	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,692,576 (GRCm39)	Y389F	probably damaging	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ddx55	T	A	5: 124,705,028 (GRCm39)	Y428*	probably null	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Nr4a2	T	A	2: 57,000,163 (GRCm39)	D311V	probably damaging	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Prc1	C	A	7: 79,962,911 (GRCm39)	H131Q	probably benign	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Scnn1b	T	C	7: 121,501,509 (GRCm39)	V108A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vps35	A	T	8: 85,987,891 (GRCm39)	D753E	probably benign	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	probably damaging	Het

Other mutations in Shc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02298:Shc4	APN	2	125,491,074 (GRCm39)	missense	probably damaging	0.96
IGL03003:Shc4	APN	2	125,565,253 (GRCm39)	nonsense	probably null
R0167:Shc4	UTSW	2	125,564,933 (GRCm39)	missense	probably benign	0.00
R0784:Shc4	UTSW	2	125,499,416 (GRCm39)	missense	probably benign	0.08
R0959:Shc4	UTSW	2	125,520,607 (GRCm39)	critical splice donor site	probably null
R1099:Shc4	UTSW	2	125,564,764 (GRCm39)	missense	probably benign	0.03
R1864:Shc4	UTSW	2	125,481,287 (GRCm39)	missense	probably damaging	1.00
R2198:Shc4	UTSW	2	125,481,266 (GRCm39)	missense	possibly damaging	0.46
R3791:Shc4	UTSW	2	125,565,251 (GRCm39)	missense	probably damaging	0.97
R4324:Shc4	UTSW	2	125,520,670 (GRCm39)	missense	probably benign	0.23
R4424:Shc4	UTSW	2	125,494,442 (GRCm39)	missense	probably benign
R4611:Shc4	UTSW	2	125,497,602 (GRCm39)	missense	probably benign	0.29
R5037:Shc4	UTSW	2	125,471,647 (GRCm39)	missense	probably damaging	1.00
R5433:Shc4	UTSW	2	125,481,350 (GRCm39)	missense	probably damaging	1.00
R5754:Shc4	UTSW	2	125,512,218 (GRCm39)	missense	probably damaging	1.00
R7795:Shc4	UTSW	2	125,565,285 (GRCm39)	missense	probably damaging	0.99
R8058:Shc4	UTSW	2	125,491,154 (GRCm39)	nonsense	probably null
R8314:Shc4	UTSW	2	125,497,536 (GRCm39)	missense	possibly damaging	0.56
R8396:Shc4	UTSW	2	125,471,617 (GRCm39)	missense	probably damaging	1.00
R8785:Shc4	UTSW	2	125,491,064 (GRCm39)	critical splice donor site	probably null
R9006:Shc4	UTSW	2	125,514,394 (GRCm39)	unclassified	probably benign
R9244:Shc4	UTSW	2	125,497,589 (GRCm39)	nonsense	probably null
R9332:Shc4	UTSW	2	125,520,618 (GRCm39)	missense	probably damaging	1.00
Z1177:Shc4	UTSW	2	125,564,843 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GGGAGCTGTTCTCAGACACAAC -3'
(R):5'- TCAGAGACCGAAGTGTCAGTG -3'

Sequencing Primer
(F):5'- CAACGTGCACAGTGATTGGC -3'
(R):5'- ACCGAAGTGTCAGTGTTCAGTCC -3'

Posted On

2015-11-11